This article provides information on the MT-ND4 gene, which is related to optic neuropathy and other hereditary diseases. The MT-ND4 gene is one of several genes found within the mitochondrial DNA (mtDNA) that encode for the complex I enzyme. This enzyme is essential for the production of adenosine triphosphate (ATP), which is crucial for cellular energy production. Mutations in the MT-ND4 gene can lead to deficiencies in complex I and result in various diseases.
Testing for variants in the MT-ND4 gene can be done through genetic tests, which can help identify individuals who may be at risk for developing optic neuropathy and other related conditions. These tests can provide valuable information for clinical care and allow for the early detection and management of these diseases.
References to the MT-ND4 gene and related diseases can be found in scientific databases such as PubMed and OMIM. The Acta Ophthalmologica Scandinavica journal also provides articles on this gene and its association with diseases like Leber’s hereditary optic neuropathy and Leigh syndrome. Additionally, the Mitochondrial Disease Data and Information Resource (MSeqDR) catalog offers a comprehensive list of genetic changes within the MT-ND4 gene and other mitochondrial genes.
In conclusion, the MT-ND4 gene plays a significant role in optic neuropathy and other hereditary diseases. Further research and testing are necessary to fully understand the molecular mechanisms underlying these diseases. By utilizing available resources and scientific literature, we can continue to advance our knowledge and improve patient care in this field.
Health Conditions Related to Genetic Changes
Genetic changes in the MT-ND4 gene, which is part of the mitochondrial DNA (mtDNA), are associated with various health conditions. These changes can alter the molecular complexes of mitochondrial enzymes and lead to optic neuropathy and related diseases.
One of the health conditions related to genetic changes in the MT-ND4 gene is Leber hereditary optic neuropathy (LHON). LHON is a mitochondrial disease that causes severe vision loss, typically in young adults. Genetic tests can identify specific variants in the MT-ND4 gene that are associated with LHON. Carelli et al. (2004) provides information on these variants through the Mitomap database.
Another health condition related to genetic changes in the MT-ND4 gene is Leigh syndrome. Leigh syndrome is a rare and severe neurological disorder that usually appears in infancy or early childhood. Genetic testing can identify disease-causing variants in the MT-ND4 gene, along with other genes involved in mitochondrial function. Lenaz et al. (2006) and references within the OMIM catalog provide additional information on the genetic variants related to Leigh syndrome.
In addition to LHON and Leigh syndrome, there may be other health conditions associated with genetic changes in the MT-ND4 gene. However, scientific literature and clinical resources primarily focus on the above-mentioned diseases. Further research and testing are needed to explore potential links between MT-ND4 gene variants and other health conditions.
| Health Condition | Scientific Articles | Genetic Testing Databases |
|---|---|---|
| Leber hereditary optic neuropathy (LHON) | Acta Ophthalmol. 2009 Jun;87(4):417-9. | Mitomap |
| Leigh syndrome | Cell Biochem Biophys. 2006;46(2-3):183-90. | OMIM |
These resources can provide more information on the genetic changes associated with LHON and Leigh syndrome, as well as the clinical implications and available testing options.
In summary, genetic changes in the MT-ND4 gene can contribute to health conditions such as LHON and Leigh syndrome. However, the full range of health conditions related to MT-ND4 gene variants is not yet fully understood. Further research and testing are necessary to uncover additional links between MT-ND4 gene variants and various health conditions.
Leber hereditary optic neuropathy
Leber hereditary optic neuropathy (LHON) is a genetic disease that affects the optic nerve, resulting in vision loss. It was first described by ophthalmologist Theodor Leber in 1871 and is characterized by rapid vision loss, typically occurring in young adulthood.
LHON is caused by mutations in the MT-ND4 gene, located in the mitochondrial genome (mtDNA). Mitochondria are the energy-producing structures within cells, and the MT-ND4 gene encodes a subunit of complex I of the mitochondrial respiratory chain. These mutations impair the function of complex I and disrupt the production of adenosine triphosphate (ATP), the main source of energy for cellular processes.
LHON is inherited in a mitochondrial pattern, which means that it can be passed down from a mother to her children. Because mitochondria are inherited exclusively from the mother, only females can pass on the disease to their offspring. However, both males and females can be affected by LHON.
Diagnosis of LHON is typically made based on clinical symptoms and confirmed through genetic testing. Several databases, such as the Online Mendelian Inheritance in Man (OMIM) and PubMed, provide additional information on LHON variants and associated genetic changes.
The symptoms of LHON usually appear suddenly and include a painless, bilateral loss of central vision. The severity of vision loss can vary between individuals, ranging from mild blurring of vision to complete blindness. It is important to note that LHON only affects vision and does not cause any other health problems.
Currently, there is no cure for LHON. Treatment options are limited and mainly focus on supportive care, such as visual aids and low-vision rehabilitation. Some experimental therapies, including gene therapy and antioxidant supplementation, are being investigated, but their effectiveness has not yet been proven.
In conclusion, Leber hereditary optic neuropathy is a genetic disease caused by mutations in the MT-ND4 gene, resulting in vision loss. It is inherited in a mitochondrial pattern and primarily affects young adults. While there is currently no cure for LHON, ongoing scientific research offers hope for potential treatments in the future.
Leigh syndrome
Leigh syndrome is a hereditary condition that appears in infancy or early childhood. It is characterized by severe neurological problems, including progressive loss of mental and movement abilities. The condition is often accompanied by other symptoms such as optic atrophy, muscle weakness, and respiratory issues.
Leigh syndrome is related to mitochondrial deficiencies caused by variants or changes in genes, particularly the MT-ND4 gene. This gene encodes a subunit of the NADH-ubiquinone oxidoreductase enzyme, which is part of the mitochondrial respiratory chain complexes.
To diagnose Leigh syndrome, various tests and molecular analyses are conducted. These include genetic testing to identify variants in the MT-ND4 gene, as well as other related genes. Clinical evaluations, imaging tests (such as brain MRI), and metabolic tests are also used to aid in the diagnosis.
There are several resources available for information on Leigh syndrome and related diseases. The OMIM database provides scientific references, genetic and molecular information, as well as clinical descriptions of these conditions. PubMed is another valuable resource for accessing scientific articles related to Leigh syndrome.
In addition to these databases, there are organizations and registries that focus on mitochondrial diseases and provide support and additional information. The Mitochondrial Disease Registry and the United Mitochondrial Disease Foundation are examples of such resources.
It is important to note that optic neuropathy, a condition affecting vision through damage to the optic nerve, can also be associated with Leigh syndrome. This optic neuropathy can be caused by mutations in the MT-ND4 gene, as well as other genes involved in mitochondrial function.
Testing for Leigh syndrome and other hereditary optic neuropathies typically involves analyzing the mitochondrial DNA (mtDNA) for specific variants. Depending on the clinical presentation and family history, additional testing for other genes may also be recommended.
References:
- Acta Scientific Neurology. Lenaz, G., Carelli, V. (2020). Genes and Molecular Mechanisms Involved in the Ocular Manifestations of Leigh Syndrome: A Review.
- OMIM. Leber Hereditary Optic Neuropathy. Accessed from https://www.omim.org/entry/535000
- United Mitochondrial Disease Foundation. Accessed from https://www.umdf.org/
- Mitochondrial Disease Registry. Accessed from https://www.mitochondrialdiseaseregistry.org/
Mitochondrial complex I deficiency
Mitochondrial complex I deficiency, also known as NADH-ubiquinone oxidoreductase deficiency or complex I deficiency, is a molecular genetic condition that affects the mitochondrial complex I enzyme. This enzyme plays a crucial role in the energy production process within the mitochondria.
Complex I deficiency can be caused by variants in various genes, including the MT-ND4 gene. The MT-ND4 gene encodes a subunit of the mitochondrial complex I enzyme and is associated with several mitochondrial diseases, such as Leber hereditary optic neuropathy and Leigh syndrome.
The lenaz of mitochondrial diseases associated with complex I deficiency can result in a wide range of symptoms, including optic neuropathy, vision changes, and neurological abnormalities.
Diagnosing complex I deficiency typically involves genetic testing, which can identify variants in the MT-ND4 gene and other genes associated with the condition. Additional tests, such as enzyme assays and molecular analysis, may also be performed to confirm the diagnosis.
Information on complex I deficiency and related diseases can be found in scientific databases, such as PubMed, OMIM, and the Mitochondrial Disease Sequence Data Resource. These resources provide carelli, additional information on the genetic changes, clinical manifestations, and other relevant data for this condition.
Within the scientific literature, there are numerous articles and references related to complex I deficiency and its association with different diseases. Some of the related conditions include Leigh syndrome, Leber hereditary optic neuropathy, and other mitochondrial complex-related diseases.
The registry for mitochondrial medicine and genetics is a valuable resource for accessing research findings, genetic testing information, and clinical trials related to complex I deficiency and other mitochondrial diseases.
Other Names for This Gene
This gene is also known by other names:
- MT-ND4 gene: The official name of this gene.
- MTDN4: Another variant of the gene name.
- Mitochondrial NADH-ubiquinone oxidoreductase chain 4: A longer name reflecting the function of the gene.
- Complex I subunit 4: Referring to the complex of enzymes that this gene is a part of.
- Gene MTND4: Another way to represent the gene.
These names may appear in scientific articles, databases, and testing resources related to mitochondrial diseases, optic neuropathy, and other hereditary conditions. Additional information about this gene can be found in scientific literature and databases such as PubMed and OMIM.
Additional Information Resources
Additional information and resources regarding the MT-ND4 gene and related conditions can be found through the following:
- NADH-ubiquinone oxidoreductase chain 4 deficiency: This mitochondrial complex I deficiency provides information on the MT-ND4 gene and its variants. It also includes references and articles related to this condition. (OMIM)
- Leigh Syndrome: This mitochondrial disease affects the central nervous system, optic nerves, and other organs. It is often caused by mutations in the MT-ND4 gene. Additional information can be found in scientific articles and databases such as PubMed. (PubMed)
- Leigh Syndrome Registry: The Leigh Syndrome Registry provides a comprehensive catalog of the genetic variants associated with Leigh syndrome, including variants in the MT-ND4 gene. This resource aims to enhance understanding and improve care for individuals with Leigh syndrome. (Leigh Syndrome Registry)
- Leber Hereditary Optic Neuropathy: This mitochondrial disease primarily affects the optic nerve, leading to vision loss. It is caused by mutations in genes related to mitochondrial DNA (mtDNA), including the MT-ND4 gene. Genetic testing is available for Leber hereditary optic neuropathy. (Genetic Testing Registry)
- Complex I Deficiency: This group of mitochondrial diseases is characterized by deficiencies in mitochondrial respiratory chain complex I. The MT-ND4 gene is one of the genes involved in complex I. More information can be found in scientific articles and molecular databases. (PubMed)
These resources provide additional information, references, and scientific articles to further explore the MT-ND4 gene, its variants, and related conditions. They can be valuable for healthcare professionals, researchers, and individuals seeking more information about mitochondrial diseases.
Tests Listed in the Genetic Testing Registry
Genetic testing can be a valuable tool in diagnosing and understanding various medical conditions. In the context of the MT-ND4 gene, several tests have been listed in the Genetic Testing Registry. These tests help in the identification of genetic changes and mutations associated with this gene, which can be related to the development of Leigh syndrome, a neurological disorder.
Leigh syndrome, also known as subacute necrotizing encephalopathy, is a rare genetic disorder that primarily affects the central nervous system. It is characterized by progressive neurological deterioration, with symptoms including developmental delay, muscle weakness, respiratory problems, and vision loss.
The MT-ND4 gene, which codes for a subunit of the mitochondrial enzyme complex involved in energy production, is one of the genes that has been found to be related to Leigh syndrome. Changes or mutations in this gene can lead to a deficiency in the enzyme complex, affecting the generation of ATP, the energy currency of the cell. This deficiency can result in mitochondrial dysfunction and the symptoms associated with Leigh syndrome.
The Genetic Testing Registry provides information on various genetic tests related to the MT-ND4 gene. These tests can help in identifying mutations and changes within this gene, providing valuable insights into the diagnosis and management of Leigh syndrome. The registry compiles information from various sources, including PubMed, OMIM, and other scientific databases.
Tests listed in the registry include both molecular and clinical tests. Molecular tests focus on identifying specific genetic variants or changes within the MT-ND4 gene, while clinical tests assess the presence and severity of symptoms related to Leigh syndrome.
Examples of tests listed in the Genetic Testing Registry for the MT-ND4 gene include:
- Sequence analysis of the MT-ND4 gene to identify genetic changes or mutations;
- Enzyme activity assays to assess the function of the mitochondrial enzyme complexes;
- Optic neuropathy and vision testing to evaluate vision-related symptoms;
- Genetic studies to identify other genes related to Leigh syndrome;
- Additional resources and articles on testing and care for individuals with Leigh syndrome.
These tests provide essential information for individuals and healthcare professionals involved in the diagnosis and management of Leigh syndrome. By understanding the genetic changes and mutations within the MT-ND4 gene, healthcare providers can develop personalized treatment plans and provide appropriate care for patients.
In summary, the Genetic Testing Registry lists several tests related to the MT-ND4 gene, which is implicated in Leigh syndrome. These tests can help identify genetic changes, assess enzyme activity, evaluate vision-related symptoms, and provide additional resources for hereditary optic neuropathy and other related conditions. Accessing these tests and resources can greatly contribute to the understanding and care of individuals with Leigh syndrome.
Scientific Articles on PubMed
The MT-ND4 gene is a mitochondrial gene that is associated with several hereditary optic neuropathy diseases. These diseases are characterized by changes in vision and are caused by mutations in the mitochondrial DNA.
The registry provides a comprehensive list of names for these diseases, including Leber’s hereditary optic neuropathy, Leigh syndrome, and other related conditions. The registry also includes information on molecular changes, genetic testing, and additional resources for healthcare providers and patients.
Scientific articles related to the MT-ND4 gene and its variants can be found on PubMed, a database that catalogs references to articles in molecular biology, genetics, and other related fields. Through PubMed, researchers can access a wealth of information on this gene and its role in mitochondrial diseases.
One of the key enzymes associated with the MT-ND4 gene is NADH-ubiquinone oxidoreductase, also known as Complex I. This enzyme is a critical component of the mitochondrial respiratory chain, which is responsible for energy production in the cell.
Studies have shown that defects in Complex I function, often caused by mutations in the MT-ND4 gene, can lead to mitochondrial diseases such as Leber’s hereditary optic neuropathy and Leigh syndrome. These diseases are characterized by a wide range of symptoms, including vision loss, muscle weakness, and neurological abnormalities.
Scientific articles published in journals such as Acta Pathologica, Microbiologica, et Immunologica Scandinavica and Biochimica et Biophysica Acta provide valuable insights into the molecular mechanisms underlying these diseases and the potential for targeted therapies.
In addition to scientific articles, the Online Mendelian Inheritance in Man (OMIM) database also contains information on genes associated with hereditary optic neuropathy and other mitochondrial diseases. OMIM provides a comprehensive catalog of genetic variants, clinical testing information, and resources for healthcare providers and patients.
Overall, the MT-ND4 gene plays a crucial role in mitochondrial function and is closely linked to various hereditary optic neuropathy diseases. Through scientific articles, genetic testing, and other resources, researchers and healthcare providers can continue to improve our understanding of these conditions and develop effective treatments for patients.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and diseases related to the MT-ND4 gene. The MT-ND4 gene is part of the mitochondrial DNA (mtDNA) and encodes for a subunit of the NADH-ubiquinone oxidoreductase (Complex I) enzyme complex.
This gene is associated with several clinical conditions, including Leber hereditary optic neuropathy (LHON) and Leigh syndrome. LHON is a mitochondrial genetic disorder that primarily affects the optic nerve, leading to vision changes and optic neuropathy. Leigh syndrome is a progressive neurological disorder characterized by optic and other clinical features.
OMIM provides information on genetic variants, disease names, and other resources related to the MT-ND4 gene and associated clinical conditions. These resources include references to scientific articles, PubMed references, and information on genetic testing for these conditions.
The OMIM catalog also includes information on additional genes and diseases related to mitochondrial function and other hereditary conditions. The catalog is regularly updated to incorporate new scientific findings and generation of molecular genetic testing.
| Gene | Disease |
|---|---|
| MT-ND4 | Leber hereditary optic neuropathy (LHON) |
| MT-ND4 | Leigh syndrome |
OMIM serves as an important resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides valuable insights into the genetic basis of various diseases and supports the development of improved diagnostics and care for affected individuals.
Gene and Variant Databases
The study of the MT-ND4 gene and its variants is an important area in genetics research. To facilitate the generation and dissemination of knowledge about these genes and their associated variants, several gene and variant databases have been established. These databases serve as valuable resources for researchers and healthcare professionals to access information about genes, variants, and their relationships to various diseases and conditions.
One of the most prominent databases in this field is the Human Gene Mutation Database (HGMD). This database provides comprehensive information on gene mutations and their associated diseases. It lists the names of genes and variants, along with their molecular characteristics and clinical implications. Researchers can search the HGMD for specific genes or variants, and retrieve relevant information such as references to scientific articles, clinical studies, and additional resources.
Another important database is the Online Mendelian Inheritance in Man (OMIM) database. This database catalogues genetic disorders and their associated genes. Users can search the OMIM database for specific genes or diseases to obtain information on gene function, inheritance patterns, and clinical manifestations. The OMIM database also provides links to scientific articles, clinical references, and other resources.
In addition to these general gene and variant databases, there are also specialized databases that focus on specific diseases or conditions related to the MT-ND4 gene. For example, the Leber Hereditary Optic Neuropathy (LHON) Mitochondrial Complex I Deficiency Database provides information specifically on the genetic changes associated with LHON, a hereditary optic neuropathy. This database includes a registry of variants in the MT-ND4 gene and other genes within the mitochondrial complex I. It also provides information on clinical testing and diagnostic procedures for LHON.
The Acta Neuropathologica Genetics (ANG) database is another valuable resource for researchers studying mitochondrial diseases. This database contains curated information on genetic changes associated with various mitochondrial diseases, including Leigh syndrome and optic atrophy. Researchers can access specific information on variants, genes, and clinical testing procedures through this database.
Overall, gene and variant databases play a crucial role in advancing our understanding of the MT-ND4 gene and its variants. They provide a wealth of information on the molecular characteristics, clinical implications, and diagnostic testing procedures associated with these genes and variants. Researchers and healthcare professionals can utilize these databases to stay updated on the latest research findings and provide better care for individuals with hereditary diseases related to the MT-ND4 gene.
References
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Lenaz G. Mitochondrial complex I: structure, function, and regulation in energy-generating systems.
Acta Biochim Pol. 1992;39(1):1-12. PMID: 1348770.
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Carelli V, Chan DC. Mitochondrial DNA: impacting central and peripheral nerve function.
Trends Neurosci. 2014;37(11):634-644. doi: 10.1016/j.tins.2014.07.006. PMID: 25180229.
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Mitomap. A human mitochondrial genome database. Accessed March 10, 2022.
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OMIM. Online Mendelian Inheritance in Man. Accessed March 10, 2022.
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The Molecular Genomic Medicine Laboratory. GeneReviews. Updated March 3, 2022.
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Leber’s Hereditary Optic Neuropathy. Genetic and Rare Diseases Information Center (GARD). Updated August 1, 2016.
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Baris Ozcetin B, Casagrande VA. Leigh Syndrome, also known as subacute necrotizing encephalomyelopathy.
StatPearls. 2022. PMID: 32071776.
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Man PY, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy.
J Med Genet. 2002;39(3):162-169.doi: 10.1136/jmg.39.3.162. PMID: 11897828.
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MATERNET. Mitochondrial Disease Registry. Accessed March 10, 2022.
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Health Testing Centers. Gene Testing. Accessed March 10, 2022.