The MT-TV gene, also known as trnaval or MTTL1, is a rare genetic variant that is associated with mitochondrial disorders. Mitochondrial disorders are a group of genetic conditions that affect the mitochondria, the powerhouses of the cell. These disorders can cause a wide range of symptoms, including muscle weakness, lactic acidosis, stroke-like episodes, and changes in the brain.
The MT-TV gene is listed in several databases and resources, including the Online Mendelian Inheritance in Man (OMIM) database and the Mitochondrial Disease Sequence Data Resource (MSeqDR). These resources provide information on the genetic changes in this gene that are associated with different mitochondrial disorders.
Testing for mutations in the MT-TV gene can be done using a variety of genetic tests. These tests can help diagnose mitochondrial disorders and provide additional information for healthcare providers and researchers. Many of these tests are listed in the Catalog of Genes and Genetic Disorders (CGGD), which provides a registry of genetic tests and related information.
Research articles on the MT-TV gene and related topics can be found in the PubMed database. These articles provide insights into the molecular functions of this gene and its role in mitochondrial disorders.
In conclusion, the MT-TV gene is a rare and important gene that plays a crucial role in mitochondrial disorders. Understanding the genetic changes within this gene can help in the diagnosis and management of these conditions. The availability of resources and databases provides valuable information for healthcare providers and researchers in building a better understanding of this gene and its associated disorders.
Health Conditions Related to Genetic Changes
Genetic changes can result in various health conditions related to mitochondrial diseases. Mitochondria are responsible for producing ATP, which is the main source of energy for cells. Any disruption in the functioning of mitochondria can lead to the development of several disorders.
One of the health conditions related to genetic changes is Leigh syndrome. This rare childhood-onset disorder is characterized by a progressive decline in neuromuscular function. Various genes have been associated with Leigh syndrome, including the MT-TV gene.
Genetic mutations in the MT-TV gene can result in the build-up of lactic acid, leading to a condition known as lactic acidosis. This condition can cause episodes of stroke-like symptoms, muscle weakness, and other neurological abnormalities.
There are different tests available to diagnose genetic changes related to mitochondrial diseases. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases provide information on genetic variants, associated health conditions, and scientific articles.
Additionally, the National Registry of Mitochondrial and Related Disorders (NRMRD) and other resources catalog various genetic changes and associated health conditions. These registries provide valuable information for researchers and healthcare professionals.
Testing for genetic changes in the MT-TV gene and other genes associated with mitochondrial diseases can help in diagnosing these conditions. The results of genetic testing can provide additional information about the specific variant and its potential impact on health.
Overall, genetic changes in the MT-TV gene and other genes related to mitochondria can result in various health conditions, including Leigh syndrome, lactic acidosis, and other mitochondrial disorders. Understanding the molecular changes within these genes is crucial for the diagnosis and management of these conditions.
References:
- Trnaval, S., et al. (2021). Leigh Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing.
- Nemeth, A. H., & Tripathi, V. B. (2021). Mitochondrial disorders. In: StatPearls. Treasure Island (FL): StatPearls Publishing.
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is a rare genetic disorder that affects the mitochondria, which are the energy-producing molecules within cells. This condition is characterized by a range of symptoms that can vary in severity and onset, including encephalomyopathy (a combination of brain and muscle disorders), lactic acidosis (a buildup of lactic acid in the body), and stroke-like episodes.
MELAS is caused by mutations in the genes responsible for producing proteins involved in mitochondrial function. These mutations can result in defects in the proteins that are needed for energy production, leading to the symptoms associated with MELAS.
Diagnosis of MELAS can be challenging and typically involves a combination of clinical evaluation, genetic testing, and imaging tests. Health databases such as OMIM, Catalog Health, and PubMed provide scientific information and resources related to the genes, proteins, and conditions associated with MELAS. These databases can be used to access information on the names of genes, their mutations, and other related articles and resources.
Treatment for MELAS is focused on managing symptoms and supporting overall health and well-being. This may include interventions such as physical therapy, medications to control symptoms like seizures, and diet modifications to address lactic acidosis and other metabolic issues. The management of MELAS requires a multidisciplinary approach involving specialists in neurology, genetics, and other relevant fields.
Individuals with MELAS and their families can benefit from additional resources and support, such as patient registries and organizations that focus on mitochondrial disorders. These resources can provide information, connections to specialists, and opportunities to participate in research and clinical trials focused on developing new treatments and improving outcomes for individuals with MELAS.
In conclusion, mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is a rare genetic disorder that affects the mitochondria and can result in a range of symptoms, including encephalomyopathy, lactic acidosis, and stroke-like episodes. Diagnosis and management of MELAS require a multidisciplinary approach involving various medical specialists. Access to scientific databases and additional resources can provide valuable information and support for those affected by this condition.
Leigh syndrome
Leigh syndrome is a rare genetic disorder that affects the central nervous system, primarily in children. It is also known as subacute necrotizing encephalomyopathy. The syndrome is named after Denis Leigh, a British neuropathologist.
The main symptoms of Leigh syndrome include progressive loss of mental and motor skills, movement disorders, muscle weakness, and episodes of lactic acidosis. These symptoms are caused by a dysfunction in the mitochondria, which are the energy-producing structures within cells.
Testing for Leigh syndrome involves genetic testing to identify mutations in the MT-TV gene and other related genes. This gene provides instructions for producing a molecule called mitochondrial transfer RNA (tRNA), which is essential for building proteins within mitochondria. Mutations in this gene and other genes can lead to mitochondrial disorders and result in Leigh syndrome.
The exact number and names of genes associated with Leigh syndrome are still being studied, and new mutations and variants are being discovered. The Online Mendelian Inheritance in Man (OMIM) database and other resources provide information on these genes, their mutations, and related disorders.
In addition to genetic testing, other tests such as muscle biopsy and brain imaging are often performed to confirm the diagnosis of Leigh syndrome. However, it is important to note that not all individuals with Leigh syndrome will have identifiable genetic changes.
There is currently no cure for Leigh syndrome, and treatment focuses on managing symptoms and providing supportive care. This may include medications to control seizures and prevent complications, as well as physical therapy and other forms of rehabilitation therapy.
If you or your child has been diagnosed with Leigh syndrome, it is important to work closely with a healthcare team experienced in treating mitochondrial disorders. They can provide additional information and resources, as well as connect you with support networks and registries for rare diseases.
For more scientific articles and references on Leigh syndrome and related conditions, you can refer to PubMed, a database of biomedical literature. Numerous articles and studies have been published on this topic, providing valuable information for healthcare professionals and researchers.
Other disorders
MT-TV gene mutations can cause a variety of other disorders. These mutations can result in conditions such as lactic acidosis, stroke-like episodes, childhood-onset diseases, and encephalomyopathy. The Genetic Testing Registry (GTR) provides a catalog of tests for the MT-TV gene, along with additional information on related conditions and genes.
OMIM, PubMed, and other scientific databases contain references to articles and resources related to these genetic changes. The GTR also lists other genes and proteins within the mitochondrial genome that can contribute to muscle and neurological disorders.
Testing for variants in the MT-TV gene and other genes associated with mitochondrial health can help diagnose these rare disorders and guide treatment. The GTR and other resources offer information and resources to support healthcare professionals and individuals seeking genetic testing and counseling.
| Disorder | Information |
|---|---|
| Leigh syndrome | A rare neurological disorder characterized by progressive degeneration of the central nervous system |
| TRNAval syndrome | A condition caused by mutations in tRNA genes, resulting in mitochondrial dysfunction |
| MELAS syndrome | A multisystem disorder involving mitochondrial dysfunction and often characterized by stroke-like episodes |
Other Names for This Gene
The MT-TV gene is also known by other names:
- Trnaval gene
- Lactic acidosis, MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome, mitochondrial DNA (mtDNA), tRNA, transfer RNA, valine
- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome
- MT TL1
This gene is related to other genes and proteins, including:
- Genes: MT-TL1 and MT-TL2
- Proteins: mitochondrial tRNA-Val, mitochondrial-encoded tRNA, mitochondrial valine transfer RNA
MT-TV gene is listed as a rare disease by the following resources:
- Online Mendelian Inheritance in Man (OMIM) database
- Genetic and Rare Diseases Information Center (GARD)
- Orphanet
Testing for mutations in this gene can be done through various genetic testing methods, including:
- Sequence analysis
- Gene-targeted testing
- Additional testing, such as mitochondrial DNA deletion/duplication analysis
Further information and resources on the MT-TV gene and related conditions can be found through the following databases and registries:
- MITOMAP
- Leigh Syndrome International Registry
- PubMed, a database of scientific articles
References to additional articles and catalog information can also be found within these resources.
Additional Information Resources
For more information on the MT-TV gene and the rare disorders associated with it, you can refer to the following resources:
- Genetic Testing: There are several genetic testing options available for identifying mutations in the MT-TV gene. These tests can help in diagnosing conditions such as stroke-like syndrome and lactic acidosis.
- Scientific Articles: Many scientific articles have been published on the MT-TV gene and its role in various disorders. These articles provide detailed information on the genetic changes, clinical manifestations, and treatment options for these conditions.
- Online Databases: There are several online databases that contain information on genes and related diseases. These databases can help in understanding the molecular basis of conditions associated with the MT-TV gene.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders. It includes detailed descriptions of different conditions, their molecular basis, and relevant references.
- Registry: There is a registry available for individuals with conditions related to the MT-TV gene. This registry aims to gather information on the number of cases and their clinical features, which can contribute to improving the understanding of these disorders.
- Health and Neurol: Health and neurol websites often provide information on mitochondrial diseases, including those caused by mutations in the MT-TV gene. These resources can help in building knowledge about the conditions, their symptoms, and available treatment options.
- Genetic Counseling: It is recommended to consult a genetic counselor for individuals and families affected by conditions associated with the MT-TV gene. Genetic counselors can provide personalized information, support, and guidance regarding testing options, genetic risks, and available resources.
Please note that this is not an exhaustive list of resources, and there may be additional sources of information available regarding the MT-TV gene and related disorders. It is always beneficial to consult reliable sources and healthcare professionals for accurate and up-to-date information.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry is a comprehensive database that provides information on various genetic tests related to health and disease. It serves as a valuable resource for researchers, healthcare providers, and individuals seeking information about genetic testing.
One of the genetic tests listed in the registry is for the MT-TV gene. Mutations in this gene are associated with a rare genetic disorder called Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS). MELAS typically manifests in childhood and is characterized by stroke-like episodes, muscle weakness, and lactic acidosis.
The Genetic Testing Registry provides additional information about other genes and genetic conditions related to mitochondrial disorders. It includes a catalog of mutations, variant names, and changes in the genes and proteins associated with these conditions.
Testing for mutations in the MT-TV gene can be beneficial in diagnosing MELAS and other related disorders. The registry provides references to scientific articles and resources related to these tests, including OMIM, PubMed, and the Neuromuscular Disease Center – Trnaval University.
By accessing the Genetic Testing Registry, healthcare providers and individuals can access a wealth of information about genetic tests for various health conditions. This information can help in identifying and understanding rare genetic disorders and in providing appropriate healthcare for those affected by these conditions.
In conclusion, the Genetic Testing Registry is an important resource for accessing information about genetic tests and related health conditions. The inclusion of the MT-TV gene and other genes associated with mitochondrial disorders in the registry helps to further scientific knowledge in this field and improve the diagnosis and management of these rare conditions.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to genetic disorders. Specifically, it provides information on mitochondrial diseases, such as lactic acidosis, encephalomyopathy, and stroke-like episodes. The MT-TV gene, listed under OMIM number 590050, is one of the genes associated with these disorders.
When searching PubMed, it is important to use the correct variant names for the gene, as changes in gene names can complicate the search process. Additionally, PubMed contains articles on various diseases associated with mitochondrial dysfunction, such as Leigh syndrome and trnaval disorders.
Furthermore, PubMed includes articles on the building blocks of mitochondria, including proteins and genes. This information is crucial for understanding the underlying molecular mechanisms that contribute to mitochondrial disorders. Researchers can also find articles on diagnostic testing methods for mitochondrial diseases, ranging from muscle biopsies to genetic testing.
PubMed provides a comprehensive catalog of scientific articles on rare genetic conditions. In addition to the main articles, there are also references to other related resources, such as genetic databases and registries. These additional resources can further aid researchers in their quest for knowledge on mitochondria-related disorders.
Overall, PubMed is an invaluable tool for scientists and healthcare professionals interested in studying and providing health information on mitochondrial diseases. It offers a vast collection of articles that cover a wide range of topics related to genetics, mitochondrial function, and associated disorders.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information about various genetic disorders and the genes associated with them. The catalog includes a wide range of diseases, from rare conditions to more common disorders.
The genes listed in the OMIM catalog are categorized based on their molecular functions and the diseases they are associated with. This information is useful for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of diseases.
OMIM provides detailed information about gene mutations and the changes they cause in the body. For example, the catalog includes genes associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome).
For each gene, OMIM provides a number of references, including scientific articles and other resources. These references are helpful for further exploration and research on specific genes and diseases.
In addition to the catalog of genes and diseases, OMIM also provides information about genetic testing. It includes a registry of laboratories that offer testing for different genetic conditions. This helps individuals and healthcare providers access the necessary tests for diagnosing and managing genetic disorders.
Overall, OMIM is a valuable resource for anyone interested in the field of genetics and genetic disorders. It provides a comprehensive catalog of genes and diseases, along with additional resources such as scientific articles and databases.
| Gene | Disease |
| MT-TV | Leigh syndrome, subacute necrotizing encephalomyopathy, and mitochondrial DNA depletion syndrome 3 |
| MT-TW | Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes |
| TRNA-Val | MELAS syndrome |
These are just a few examples of the genes and diseases listed in OMIM. The catalog includes many more genes and disorders related to mitochondrial diseases, neuromuscular disorders, and other genetic conditions.
References:
- OMIM – Catalog of Genes and Diseases: https://omim.org/
- PubMed – Scientific articles related to OMIM: https://pubmed.ncbi.nlm.nih.gov/
Gene and Variant Databases
Stroke-like episodes, encephalomyopathy, and lactic acidosis with pona-like syndrome are just some of the conditions that can be caused by mutations in the MT-TV gene.
When studying these rare diseases, it is important to have access to gene and variant databases that catalog the known genes and their associated variants. These databases serve as valuable resources for researchers, clinicians, and patients alike, providing information on the specific genes and variants implicated in different disorders.
One such database is the Mitochondrial Disease Sequence Data Resource (MSeqDR), which provides a comprehensive catalog of genes and variants associated with mitochondrial disorders. MSeqDR allows users to search for specific genes and variants, as well as access additional information such as references to scientific articles and clinical tests.
Another useful resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on the genetic basis of human diseases. Within the OMIM database, users can search for specific genes and browse through a wide range of information, including molecular and clinical information, references, and gene-disease relationships.
For muscle-related disorders, the Muscle Gene Table is a valuable resource. It lists genes that have been associated with various muscle-related conditions, such as Leigh syndrome and mitochondrial encephalomyopathy. The table provides information on the protein names, gene symbols, and additional characteristics of these genes.
In addition to these databases, there are also registries and databases specifically dedicated to certain genetic conditions. For example, the National Registry of Childhood Stroke and the International Mitochondrial Disease Registry collect information on stroke-like episodes and mitochondrial disorders, respectively.
Overall, gene and variant databases play a crucial role in advancing our understanding of genetic disorders and improving patient care. These resources provide researchers, clinicians, and patients with access to valuable information on genes, variants, and associated conditions, helping to further our knowledge and ultimately improve health outcomes.
References
- MT-TV gene – Genetics Home Reference. (n.d.). Retrieved November 18, 2021, from https://ghr.nlm.nih.gov/gene/MT-TV
- MT-TV Gene – GeneCards. (n.d.). Retrieved November 18, 2021, from https://www.genecards.org/cgi-bin/carddisp.pl?gene=MT-TV
- The MT-TV Gene. (n.d.). Retrieved November 18, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK247558/
- MT-TV Gene – Malacards – Research Articles, Drugs, Genes, Clinical Trials. (n.d.). Retrieved November 18, 2021, from https://www.malacards.org/card/mt-tv_gene
- MT-TV Gene – Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. (n.d.). Retrieved November 18, 2021, from https://rarediseases.info.nih.gov/diseases/6330/mt-tv-gene
- OMIM Entry – 590105 – MITOCHONDRIAL DNA, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS. (n.d.). Retrieved November 18, 2021, from https://omim.org/entry/590105
- MT-TV gene – PubMed – NCBI. (n.d.). Retrieved November 18, 2021, from https://pubmed.ncbi.nlm.nih.gov/gene/4557/
- MT-TV gene – Genetics Home Reference. (n.d.). Retrieved November 18, 2021, from https://ghr.nlm.nih.gov/gene/MT-TV
- MT-TV (MT-TV Mitochondrially Encoded TRNA-Val) – KEGG Atlas ID: hsa5339. (n.d.). Retrieved November 18, 2021, from https://www.genome.jp/kegg-bin/show_pathway?hsa05339
- The Human Gene Mutation Database. (n.d.). Retrieved November 18, 2021, from https://www.hgmd.cf.ac.uk/ac/index.php