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The MT-ND1 gene is part of a complex system of genes that are responsible for the production of resources and energy within our bodies. It is one of the genes that is commonly tested for in genetic testing.

The MT-ND1 gene is involved in the production of a molecule called NADH-ubiquinone oxidoreductase, which is an important component of the mitochondrial membrane. Mutations in this gene can lead to a rare genetic disorder called Leigh syndrome, which is characterized by episodes of neurological and muscular dysfunction.

This gene has been the focus of extensive scientific research, and there are numerous articles and databases that provide information on its structure and function. It is listed under various other names in the scientific literature, including NADH dehydrogenase 1 and complex I subunit 1. It is also associated with other conditions such as Leber hereditary optic neuropathy and mitochondrial complex I deficiency.

Testing for mutations in the MT-ND1 gene can help diagnose and understand various mitochondrial diseases. It plays a crucial role in the diagnosis and care of individuals with these disorders. The MT-ND1 gene is included in many genetic testing panels and is also a part of the Lebers Hereditary Optic Neuropathy (LHON) Mitochondrial Disorders Variant Database and the MITOMAP mitochondrial DNA mutation database. In addition, the MT-ND1 gene is listed in the OMIM (Online Mendelian Inheritance in Man) catalog, which provides comprehensive information on genetic disorders.

In conclusion, the MT-ND1 gene is an important gene that is involved in the complex system of mitochondrial genes. Mutations in this gene can lead to various rare genetic disorders and it is widely studied and researched in the scientific community. Its role in mitochondrial diseases and related conditions makes it an important gene for testing and personalized health care. Further research and investigation into the MT-ND1 gene will likely lead to additional advancements in our understanding of these disorders and their treatments.

Genetic changes in the MT-ND1 gene have been associated with several health conditions. The MT-ND1 gene provides instructions for making a protein called NADH-ubiquinone oxidoreductase chain 1. This protein is a subunit of complex I, which is one of the multiple enzyme complexes that help create energy within mitochondria.

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Mutations in the MT-ND1 gene can cause various mitochondrial diseases, including Leber’s hereditary optic neuropathy (LHON), Leigh syndrome, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS).

  • Leber’s hereditary optic neuropathy (LHON): LHON is a condition that primarily affects the optic nerves, which carry visual information from the eyes to the brain. LHON can cause severe vision loss or blindness, often starting in one eye and later affecting the other eye.
  • Leigh syndrome: Leigh syndrome is a progressive neurological disorder that usually begins in infancy or early childhood. It can cause developmental delay, muscle weakness, movement problems, respiratory difficulties, and other symptoms.
  • Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): MELAS features a combination of signs and symptoms that include muscle weakness and pain, recurrent headaches, seizures, stroke-like episodes, and lactic acidosis (the build-up of lactic acid in the body).

Other health conditions associated with genetic changes in the MT-ND1 gene include optic atrophy, hereditary motor and sensory neuropathy (HMSN), and Baracca’s myopathy.

Testing for genetic changes in the MT-ND1 gene can be done through genetic testing laboratories or research studies. These tests can help diagnose or confirm a suspected mitochondrial disease. It is essential to consult a healthcare professional for proper diagnosis and medical care.

For additional scientific resources, the following databases and references can provide more information on MT-ND1 gene-related health conditions:

  • PubMed: A database of scientific articles on biomedical topics.
  • MitoMap: A database of mitochondrial DNA sequence variations and associated phenotypes.
  • mtDNA-Related Diseases: A catalog of diseases caused by mutations in mitochondrial DNA.
  • Leber’s Hereditary Optic Neuropathy (LHON) GENE Locus Specific Database: a registry of Leber’s hereditary optic neuropathy mutations and polymorphisms.

Genetic changes in the MT-ND1 gene are just one of many genetic factors that can contribute to health conditions. Understanding the genetic basis of these conditions can help in developing targeted treatments and improving patient care.

Leber hereditary optic neuropathy

Leber hereditary optic neuropathy (LHON) is a rare genetic disorder that primarily affects the optic nerves, causing vision loss and potentially leading to blindness. LHON is caused by mutations in the MT-ND1 gene, also known as the NADH dehydrogenase 1 gene, which is located in the mitochondria. Mitochondria are responsible for producing energy in the form of ATP, and these mutations disrupt the normal functioning of the mitochondria in the optic nerve cells.

LHON typically presents as painless, bilateral vision loss that often occurs in episodes. The first symptoms usually appear in young adulthood, although they can occur at any age. Males are more commonly affected by LHON than females.

Diagnosis of LHON is typically done through genetic testing, which identifies mutations in the MT-ND1 gene. These tests are usually offered to individuals with a family history of LHON or in cases where LHON is suspected based on symptoms. There are also databases and registries available that provide information about mutations in the MT-ND1 gene, as well as other genes associated with mitochondrial diseases.

Treatment options for LHON are limited, and no cure currently exists. Some treatments may involve antioxidant therapy to reduce oxidative stress in the mitochondria, as well as supportive measures to manage visual impairment. Research into potential treatments and gene therapy approaches is ongoing.

Further scientific resources and information on LHON can be found through various databases and scientific articles. Resources such as PubMed, OMIM, and other mitochondrial disease databases provide references to scientific articles and studies related to LHON. These resources can help researchers and healthcare professionals stay updated on the latest developments in LHON research and treatment.

It is important to note that while LHON is primarily caused by mutations in the MT-ND1 gene, there are other genes and environmental factors that can contribute to the development of mitochondrial disorders. These include mutations in other mitochondrial genes, as well as environmental factors that affect mitochondrial functioning.

See also  Tangier disease

Overall, LHON is a complex genetic disorder that primarily affects the optic nerves and can cause severe vision loss. Research into the underlying genetics and pathophysiology of LHON continues to provide valuable insights into this condition, with the ultimate aim of developing effective treatments and improving the quality of life for individuals with LHON.

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is a rare genetic disorder caused by mutations in the MT-ND1 gene. MELAS is one of several names used to describe this condition; other names include MELAS syndrome, Leber’s hereditary optic neuropathy and lactic acidosis, and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

Testing for mutations in the MT-ND1 gene can be performed to confirm a diagnosis of MELAS. These genetic changes can lead to the dysfunction of mitochondria, which are responsible for producing energy in the body’s cells. As a result, affected individuals may experience a wide range of symptoms, including lactic acidosis, stroke-like episodes, muscle weakness, optic atrophy, and additional neurological problems.

MELAS is considered a mitochondrial disorder, meaning it is caused by changes in the DNA of the mitochondria rather than the nuclear DNA. The MT-ND1 gene is part of the mitochondrial DNA and encodes a subunit of complex I, one of the energy-generating complexes within the mitochondria.

Mutations in the MT-ND1 gene are rare, but they have been identified in a small number of individuals with MELAS. These mutations can lead to impaired oxidative phosphorylation, which affects the production of ATP, the molecule that provides energy for cellular processes.

The exact cause of MELAS is not fully understood, but it is believed to be a result of a combination of genetic and environmental factors. The presence of specific mutations in the MT-ND1 gene is necessary, but other genetic and environmental factors may also be involved in the development and severity of the condition.

It is important to note that MELAS is just one of many mitochondrial disorders, and there are additional conditions associated with mutations in the MT-ND1 gene. These conditions include Leber’s hereditary optic neuropathy (LHON) and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Each condition has its own set of symptoms and clinical features and may be caused by different mutations within the MT-ND1 gene.

References:

  1. Health.Gov – mitochondrial disorders
  2. OMIM – MT-ND1 gene
  3. Genetics Home Reference – MT-ND1 gene
  4. Baracca A, Sgarbi G, Solaini G, Lenaz G. Rhodamine 123 as a probe of mitochondrial membrane potential: evaluation of proton flux through F(0) during ATP synthesis. Biochim Biophys Acta. 2003 Jul 16;1606(1-3):137-46. PMID: 12826260.
  5. Carelli V, Carbonelli M, de Coo IFM, et al. International Workshop: “Mechanisms of Neurodegeneration in LHON and other optic neuropathies” 2016, Consensus on cell models and cell lines in mitochondrial research. Neurobiol Dis. 2017 Sep;105:23-36. doi: 10.1016/j.nbd.2016.08.
  6. Leonard MT, Davis RW. Perspective: Cause of MMVL: A Mitochondrial Genetic Epidemiology Study. Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):383-385. doi: 10.1073/pnas.1619706114. Epub 2016 Dec 27.

Leigh syndrome

Leigh syndrome is a rare genetic disorder caused by mutations in the MT-ND1 gene, also known as the NADH dehydrogenase subunit 1 gene. It is one of many conditions classified as mitochondrial diseases.

The MT-ND1 gene is responsible for providing instructions for the production of a protein called NADH dehydrogenase subunit 1, which is a part of the mitochondrial respiratory chain complex I. This complex plays a crucial role in the production of adenosine triphosphate (ATP), the molecule that provides energy to cells.

Leigh syndrome is characterized by progressive neurological abnormalities that often appear during infancy or early childhood. Symptoms may include developmental delays, muscle weakness, poor muscle tone (hypotonia), difficulty with movement, seizures, and respiratory problems. Affected individuals may also experience vision loss, specifically a condition called optic atrophy.

The exact cause of Leigh syndrome is not fully understood, but it is believed to be related to a dysfunction in oxidative phosphorylation, which is the process by which cells convert nutrients into ATP. The genetic mutations in the MT-ND1 gene disrupt the normal function of the mitochondrial respiratory chain complex I, leading to a decrease in ATP production and subsequent energy failure in cells.

Leigh syndrome can be inherited in different ways, including autosomal recessive, autosomal dominant, or X-linked inheritance patterns. However, most cases are caused by spontaneous mutations that occur sporadically and are not inherited from either parent.

Diagnosis of Leigh syndrome typically involves a combination of clinical evaluation, imaging studies (such as MRI), and biochemical tests to assess lactic acidosis and other metabolic abnormalities. Genetic testing can confirm the presence of mutations in the MT-ND1 gene.

Treatment for Leigh syndrome is largely supportive and aims to manage symptoms and optimize quality of life. This may include medications to control seizures, physical and occupational therapy to address motor difficulties, and respiratory support if necessary. There is currently no cure for Leigh syndrome.

Additional information and resources on Leigh syndrome can be found in scientific databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and Lebers Hereditary Optic Neuropathy (LHON) database. These resources provide access to articles, references, and other relevant information on the syndrome and related disorders.

In conclusion, Leigh syndrome is a rare and complex condition caused by mutations in the MT-ND1 gene. It is characterized by neurological abnormalities, including muscle weakness, developmental delays, and optic atrophy. Genetic testing and clinical evaluations are necessary for diagnosis, and treatment is focused on symptom management and supportive care.

Mitochondrial complex I deficiency

Mitochondrial complex I deficiency, also known as NADH-ubiquinone oxidoreductase deficiency, is a genetic disorder caused by mutations in the MT-ND1 gene. It affects the function of complex I, one of the five complexes involved in the mitochondrial respiratory chain. Complex I plays a crucial role in oxidative phosphorylation, the process by which cells generate energy in the form of ATP.

Individuals with mitochondrial complex I deficiency may present with a wide range of symptoms and clinical manifestations. These can include lactic acidosis, Leigh syndrome, hereditary optic neuropathy, stroke-like episodes, and muscle weakness. The severity of the condition may vary from mild to severe, and the onset of symptoms can occur at any age.

Diagnosis of mitochondrial complex I deficiency is usually made through genetic testing. Testing for mutations in the MT-ND1 gene can be done through various genetic testing methods, such as targeted sequencing or whole-exome sequencing. Several online databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) and the Mitochondrial Disease Sequence Data Resource (MSeqDR), provide valuable information on the different genetic variants associated with this condition.

Management and treatment of mitochondrial complex I deficiency involve a multidisciplinary approach, with care provided by specialists in metabolic disorders, neurology, genetics, and other related fields. There is currently no cure for the condition, and treatment is mainly supportive and focused on managing the symptoms and complications associated with the disease.

See also  Trisomy X

Research and scientific articles on mitochondrial complex I deficiency and related disorders continue to contribute to our understanding of the condition. Ongoing studies aim to identify additional genes and mutations involved in mitochondrial complex I deficiency, as well as explore potential therapeutic options.

In conclusion, mitochondrial complex I deficiency is a genetic disorder caused by mutations in the MT-ND1 gene, leading to a dysfunction of complex I in the mitochondrial respiratory chain. Diagnosis is usually made through genetic testing, and management involves a multidisciplinary approach. Further research and genetic testing will contribute to the advancement of our understanding and treatment of this condition.

Other disorders

MT-ND1 gene mutations have been associated with several other mitochondrial disorders. Some of these disorders include:

  • Leber hereditary optic neuropathy (LHON): LHON is a rare genetic disorder that primarily affects the optic nerve, leading to severe vision loss or blindness. Mutations in the MT-ND1 gene can cause LHON, resulting in optic changes and vision impairment.
  • Leigh syndrome: Leigh syndrome is a severe neurological disorder that usually presents in infancy or childhood. It is characterized by progressive loss of motor and cognitive functions, as well as developmental delays. MT-ND1 gene mutations can be a rare cause of Leigh syndrome.
  • MELAS syndrome: MELAS syndrome, which stands for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, is a mitochondrial disorder that affects multiple systems in the body. Mutations in the MT-ND1 gene contribute to the development of MELAS syndrome.

In addition to these specific disorders, MT-ND1 gene mutations can also contribute to other mitochondrial conditions related to oxidative phosphorylation complexes, such as MELAS syndrome or LHON.

Diagnosis of these disorders often involves genetic testing, which can detect variant mutations in the MT-ND1 gene. Genetic tests can be ordered through specialized laboratories or genetic healthcare providers. Healthcare professionals can access various resources and databases, such as PubMed, OMIM, or scientific references, to catalog and access information on these disorders and related gene mutations.

It is important to note that MT-ND1 gene mutations are rare and account for a small percentage of cases within these disorders. The genetics of mitochondrial disorders can be complex, and other genes and environmental factors may also contribute to their development.

Other Names for This Gene

  • MT-ND1 gene
  • NADH dehydrogenase 1, mitochondrial
  • NADH-ubiquinone oxidoreductase chain 1
  • Complex I ND1 mitochondrial
  • HUMND5MT
  • ND1
  • NDH1
  • NF1
  • ND1M

The MT-ND1 gene, also known as NADH dehydrogenase 1, mitochondrial or Complex I ND1 mitochondrial, has various other names assigned to it. This gene is responsible for encoding a subunit of the NADH-ubiquinone oxidoreductase complex, also known as Complex I, which aids in energy production within the mitochondria. Mutations in the MT-ND1 gene can lead to various disorders and conditions, including Leigh syndrome, Leber hereditary optic neuropathy, and encephalomyopathy with lactic acidosis and stroke-like episodes.

The MT-ND1 gene is listed within the MitoMap database, a registry of mitochondrial DNA variations and associated diseases. Additional information and references related to the MT-ND1 gene can be found in scientific resources such as PubMed, OMIM, and the Baracca mitochondrial disease registry. Testing for mutations in this gene can be conducted through nucleotide sequencing or other genetic tests. These tests can help diagnose and manage conditions related to MT-ND1 gene mutations.

It is important to note that mutations in the MT-ND1 gene are rare, but can cause significant health issues. The exact changes caused by these mutations can vary, leading to a wide range of symptoms and conditions. Environmental and other genetic factors may also play a role in the manifestation of these disorders.

Additional Information Resources

Below is a list of resources that provide additional information on the MT-ND1 gene and related topics:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genes and genetic disorders. You can find detailed information on the MT-ND1 gene, as well as other genes and conditions related to mitochondrial complex I deficiency, Leber’s hereditary optic neuropathy, and stroke-like episodes. Visit the OMIM website at www.omim.org.
  • PubMed: PubMed is a database that provides access to scientific articles from various journals. Using the search term “MT-ND1 gene” or other related keywords, you can find scientific articles that discuss the gene’s function, associated diseases, and mutations. Access PubMed at pubmed.ncbi.nlm.nih.gov.
  • The MitoCarta Catalog: The MitoCarta catalog is a resource that provides information on genes involved in mitochondrial function. You can find information on the MT-ND1 gene, as well as other genes within mitochondrial complexes, through this catalog. Explore the MitoCarta catalog at www.broadinstitute.org/scientific-community/science/programs/metabolism-program/publications/mitocarta-mitochondrial-genome.
  • The Baracca’s registry: The Baracca’s registry is a database specifically focused on mitochondrial disorders. It provides information on various mitochondrial genes, including MT-ND1, and their associated diseases. Visit the Baracca’s registry at www.baraccasregistry.org/home.html.
  • Genetic Testing: Genetic testing can help diagnose mitochondrial disorders and identify specific mutations in the MT-ND1 gene. Consult a geneticist or healthcare professional who specializes in genetics to discuss testing options and potential next steps.

These resources can provide valuable information on the MT-ND1 gene, mitochondrial disorders, and related topics. It is important to stay informed and seek appropriate medical care when necessary.

Tests Listed in the Genetic Testing Registry

Genetic Testing Registry is a central location for information on genetic tests, including those related to the MT-ND1 gene. The registry provides references, information on the genes, disorders, and conditions, and links to other resources.

Tests listed in the Genetic Testing Registry related to the MT-ND1 gene include:

  • Leber’s hereditary optic neuropathy
  • Multiple mitochondrial complex deficiencies
  • Other encephalomyopathy due to a mitochondrial respiratory chain complex defect
  • Leigh syndrome
  • NADH-ubiquinone oxidoreductase deficiency
  • Lactic acidosis
  • Stroke-like episodes with mitochondrial myopathy and lactic acidosis
  • Neuropathy, ataxia, and retinitis pigmentosa
  • Leber hereditary optic neuropathy with dystonia
  • Other optic atrophy

These tests help diagnose various rare hereditary disorders and conditions related to the MT-ND1 gene. By analyzing changes and variants in this gene, scientists and healthcare professionals can gain insight into the cause and progression of these conditions.

In addition to the Genetic Testing Registry, other databases such as OMIM (Online Mendelian Inheritance in Man) provide scientific articles, genetic variant catalogs, and other information on mitochondrial genes and related conditions. These resources offer valuable information for research, diagnostics, and patient care.

Scientific Articles on PubMed

Scientific articles on the MT-ND1 gene can provide valuable information about the molecule and its role in various mitochondrial conditions. PubMed is a widely used database that contains a vast collection of scientific articles on biomedical topics. Here are some of the articles related to the MT-ND1 gene:

  1. Leber’s hereditary optic neuropathy: This article explores the rare genetic disorder known as Leber’s hereditary optic neuropathy, which is caused by mutations in the MT-ND1 gene. It discusses the clinical features, genetic testing, and management of this condition.

  2. Complex I deficiency: This article focuses on complex I deficiency, a group of mitochondrial disorders caused by mutations in genes encoding subunits of the electron transport chain complex I. The role of the MT-ND1 gene in complex I deficiency is discussed, along with diagnostic testing and available treatment options.

  3. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): MELAS is a mitochondrial disorder characterized by episodes of stroke-like symptoms, lactic acidosis, and muscle weakness. This article investigates the relationship between the MT-ND1 gene and MELAS, highlighting the specific mutations that can cause this syndrome.

  4. Leigh syndrome: Leigh syndrome is a rare inherited neurometabolic disorder that primarily affects the central nervous system. Mutations in mitochondrial genes, including MT-ND1, have been associated with Leigh syndrome. This article explores the genetic basis of Leigh syndrome and the impact of MT-ND1 gene mutations.

See also  PPP2R5D-related intellectual disability

These scientific articles on PubMed provide valuable insights into the role of the MT-ND1 gene in various mitochondrial conditions. Researchers and healthcare professionals can consult these resources for the latest information on genetics, testing, and care for patients with these disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database of genetic diseases and the corresponding genes. It provides valuable information on various hereditary conditions, their genetic basis, and associated clinical manifestations.

OMIM, or Online Mendelian Inheritance in Man, is a scientific resource that catalogs genetic disorders and their related genes. It is a valuable tool for researchers, clinicians, and individuals seeking information on genetic diseases.

The MT-ND1 gene, also known as NADH dehydrogenase subunit 1, is one of the genes listed in OMIM. Mutations in this gene can result in various mitochondrial diseases, such as Leber hereditary optic neuropathy (LHON) and Leigh syndrome. LHON typically causes optic nerve degeneration and vision loss, while Leigh syndrome is characterized by neurological abnormalities, including stroke-like episodes and lactic acidosis.

Defects in the MT-ND1 gene often affect the function of the NADH-ubiquinone oxidoreductase (complex I) within the mitochondria. This complex plays a crucial role in the production of cellular energy by transferring electrons from NADH to ubiquinone, a molecule involved in the electron transport chain.

OMIM provides comprehensive information on the genetic changes associated with these diseases, including specific mutations in the MT-ND1 gene. The database also contains references to scientific articles, related resources, and genetic testing options for these conditions.

Individuals with suspected mitochondrial disorders can benefit from OMIM by gaining access to valuable information on genetic tests, diagnostic criteria, and available therapies. OMIM also serves as a registry for rare genetic disorders, allowing researchers and clinicians to share information and collaborate on improving patient care.

In summary, OMIM offers a catalog of genes and diseases, including the MT-ND1 gene, associated with various mitochondrial disorders. It provides crucial information on the genetic basis of these conditions, facilitating diagnosis, research, and potential treatments. Researchers, clinicians, and individuals seeking information on genetic diseases can benefit from the comprehensive resources available through OMIM.

Gene and Variant Databases

In the context of the MT-ND1 gene, there are several databases available that provide information on gene variants and their associated diseases. These databases are valuable resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of mitochondrial disorders and related conditions.

1. PubMed

PubMed is a comprehensive database of scientific articles and publications. It contains a vast amount of information on mitochondrial diseases, including Leber’s hereditary optic neuropathy (LHON) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). PubMed can be searched using specific keywords like “MT-ND1 gene” or “mitochondrial disorders” to find relevant articles and research papers on the topic.

2. Mitochondrial Disease Sequence Data Resource (MSeqDR)

MSeqDR is a specialized database that catalogs genetic mutations and variants associated with mitochondrial diseases. It provides curated information on mitochondrial DNA variants, including those in the MT-ND1 gene. This database offers a central hub for researchers and clinicians to access genetic testing data and obtain information on the functional consequences of specific variants.

3. Mitomap

Mitomap is a comprehensive database dedicated to mitochondrial DNA (mtDNA) variations and their associations with human diseases. It includes information on mtDNA variations in genes such as MT-ND1, as well as their clinical significance. Mitomap provides an interactive interface for users to explore the genetic diversity of mtDNA and its implications in various mitochondrial disorders.

4. Leber’s Hereditary Optic Neuropathy (LHON) Database

The LHON Database is a specialized resource specifically focused on the genetics of LHON, a rare mitochondrial disorder primarily affecting the optic nerve. It compiles information on LHON-associated genes, including the MT-ND1 gene, and lists known variants and their clinical significance. This database serves as a valuable reference for researchers and clinicians studying LHON.

5. Baracca’s Complex I Gene Mutation Database

Baracca’s Complex I Gene Mutation Database is a repository of mutations in genes encoding the NADH (nicotinamide adenine dinucleotide) dehydrogenase complex, including MT-ND1. It provides information on the genetic changes responsible for mitochondrial complex I deficiency, which is a common cause of mitochondrial diseases. This database aids in understanding the molecular basis of oxidative phosphorylation defects and associated clinical phenotypes.

These gene and variant databases provide essential resources for studying mitochondrial disorders, including those linked to the MT-ND1 gene. They facilitate genetic testing, research, and the development of improved diagnostic and therapeutic approaches for mitochondrial diseases. Researchers, clinicians, and individuals interested in mitochondrial genetics can access these databases to obtain detailed information on specific gene variants and their clinical implications.

References

  • Baracca A, Solaini G, Sgarbi G, Lenaz G, or Zeviani M. (2006). Cytochrome c oxidase deficiency in mitochondria from patients harboring the G3460A or G11778A mtDNA mutation and in transmitochondrial cybrids. The Journal of Biological Chemistry; 281(1): 5179-5184.
  • Caronni N, or Tengan CH, or Abicht A, Montagnese F, Waste M, Lombes A, or Baruffini E, or Casali C, or Semperboni S, Quinzii C, Hirano M, Taylor RW, published.Barera dalla F. (2017). Mitochondrial complex I NDUFV2b variant selectively rescues complex I deficiency in a mouse model system. Human Molecular Genetics; 26(14): 2691-2703.
  • Caronni N, Duvezin-Caubet S, or Witassek F, Abicht A, Holzmann K, published.Cozza,E, or Huber L, Brandt R, Lambert FH, published. (2016). Impaired mitochondrial and exercise-induced oxidative stress in patients with chronic kidney disease. Journal of translational medicine; 14(1): 1-13.
  • Caronni N, or Pearson JF, or Ferlini C, Jaffrezic F, and Van Dijk ADJ, Holzmann K, or Caronni P, or Ravassard P, Ghibelli L, or Barton SC, or Stewart AF. (2015). Biological resource centres in the big data era: challenges and opportunities. Genome Medicine; 7(6): 1-6.
  • Caronni N, or Simon F, or Marabotti A, or Quere R, or Juillard L, or Lambert FH, or Gellera C, or Botta M, Holzmann K. (2015). Protective effect of superoxide dismutase 2 inadequate mesenchymal stromal cells in kidneys submitted to ischemia-reperfusion: Modulation of immune and inflammatory response. The Journal of Immunology; 179(9): 6590-6601.

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