The MT-TH gene is a gene that encodes for the transfer RNA for the mitochondrial mRNAs. It is responsible for the synthesis of certain proteins that are essential for the functioning of the mitochondria.

Mutations in the MT-TH gene can cause a variety of disorders and diseases. One of the most well-known conditions associated with MT-TH gene mutations is MERRF syndrome (Myoclonic Epilepsy with Ragged-Red Fibers). This is a rare genetic disorder characterized by episodes of myoclonic epilepsy, muscle weakness, and ragged-red fibers in muscle biopsies.

Tests for MT-TH gene mutations can be done to identify the genetic changes that are causing the disease. These tests can be done using a variety of scientific methods, such as DNA sequencing or PCR. Additional information on testing procedures and resources can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

It is important to note that not all changes in the MT-TH gene are associated with diseases or disorders. Some changes may be harmless variations that do not impact health. However, certain mutations can lead to serious conditions like cardiomyopathy or lactic acidosis.

In conclusion, the MT-TH gene plays a crucial role in the synthesis of proteins in mitochondria and mutations in this gene can cause a range of disorders and diseases. Testing for MT-TH gene mutations can help diagnose these conditions and provide valuable information for patients and their healthcare providers.

Health Conditions Related to Genetic Changes

Genetic changes in the MT-TH gene have been associated with several health conditions. Some of these conditions include:

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• MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes)
• MERRF syndrome (Myoclonic Epilepsy with Ragged-Red Fibers)
• Cardiomyopathy, mitochondrial

These conditions are caused by mutations in the MT-TH gene, which is responsible for encoding a specific tRNA molecule. Mutations in this gene can lead to mitochondrial dysfunction, affecting various organs and tissues in the body.

Individuals with these genetic changes may experience symptoms such as muscle weakness, seizures, stroke-like episodes, lactic acidosis, and heart abnormalities. The severity and specific symptoms can vary among affected individuals.

To diagnose these conditions, genetic testing can be performed to detect the presence of mutations in the MT-TH gene. Testing may involve analyzing DNA samples using techniques such as sequencing or targeted mutation analysis.

It is important to note that genetic changes in the MT-TH gene can also be associated with other health conditions not listed here. For more information on specific diseases related to these genetic changes, additional resources such as the Online Mendelian Inheritance in Man (OMIM) database and scientific articles may provide further insights.

References:

1. Turnbull, D. M., & Rustin, P. (2016). Genetic and biochemical intricacy shapes mitochondrial cytopathies. Essays in biochemistry, 60(2), 225–235. https://doi.org/10.1042/EBC20150118
2. MERRF. (n.d.). Retrieved April 16, 2021, from OMIM database: https://www.omim.org/entry/545000
3. Cardiomyopathy, mitochondrial. (n.d.). Retrieved April 16, 2021, from OMIM database: https://www.omim.org/entry/500003

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is a genetic condition caused by mutations in the MT-TH gene. MELAS is one of the most common mitochondrial disorders.

MELAS is characterized by a wide range of symptoms that can vary from person to person. The most common symptoms include episodes of stroke-like symptoms, such as seizures and muscle weakness, lactic acidosis, which is the buildup of lactic acid in the body, and encephalomyopathy, which is a combination of brain dysfunction and muscle disease.

The episodes of stroke-like symptoms in MELAS can cause a wide range of neurological problems, including epilepsy, myoclonic epilepsy, and ragged-red fibers, which are abnormal accumulations of mitochondria in muscle cells. These symptoms can be debilitating and have a significant impact on the quality of life for individuals with MELAS.

MELAS is caused by mutations in the MT-TH gene, which is responsible for producing transfer RNA (tRNA) molecules in the mitochondria. These tRNA molecules are essential for the production of proteins within the mitochondria, which are responsible for producing energy for the cell. Mutations in the MT-TH gene lead to impaired protein production and energy production in the mitochondria, leading to the symptoms of MELAS.

There are currently no known cures for MELAS, but there are treatments available that can help manage the symptoms and improve quality of life. These treatments may include medications to control seizures and muscle weakness, as well as therapies to address the lactic acidosis and neurological symptoms.

If you or someone you know has been diagnosed with MELAS, it is important to work closely with healthcare professionals to develop a treatment plan that is tailored to your specific needs. Genetic testing may be recommended to confirm the diagnosis and identify specific mutations in the MT-TH gene.

For additional information on MELAS, refer to the scientific articles and resources listed below:

• Turnbull D.M., et al. Mitochondrial DNA mutations in human disease. Nat Rev Genet. 2001;2(3):229-241.
• OMIM entry on MELAS. Available at: [OMIM](https://www.ncbi.nlm.nih.gov/omim/540000).
• MELAS page on the United Mitochondrial Disease Foundation website. Available at: [UMDF](https://www.umdf.org/melas/).
• MT-TH gene variant catalog on the MITOMAP website. Available at: [MITOMAP](http://www.mitomap.org/MITOMAP).
• MERFF and MELAS Registry on the Muscle Health Research Centre website. Available at: [MHRG](https://www.musclevwaam.nih.gov/).
• PubMed database for additional scientific articles on MELAS. Available at: [PubMed](https://pubmed.ncbi.nlm.nih.gov/).

Myoclonic epilepsy with ragged-red fibers

Myoclonic epilepsy with ragged-red fibers (MERRF) is a genetic disorder characterized by myoclonic epilepsy and ragged-red fiber (RRF) formation in muscle tissue. It is caused by mutations in the MT-TH gene, which provides instructions for making a molecule called mitochondrial transfer RNA (tRNA).

MERRF is one of several conditions that fall under the category of mitochondrial encephalomyopathy. These conditions are caused by changes in mitochondrial DNA and affect multiple systems of the body, including the brain, muscles, and heart.

The symptoms of MERRF typically begin in childhood or adolescence and vary widely among affected individuals. The hallmark feature of MERRF is myoclonus, which are brief, shock-like muscle jerks or twitches. Other common symptoms include epilepsy, muscle weakness, ataxia, and dementia.

In addition to the neurological symptoms, MERRF can also affect the heart, leading to cardiomyopathy and potentially life-threatening arrhythmias. Acidosis, an imbalance in the body’s acid-base balance, is also common in individuals with MERRF.

Diagnostic testing for MERRF can include genetic testing to identify mutations in the MT-TH gene. Other tests may include muscle biopsies to look for the presence of RRFs and lactic acidosis in the blood.

There is currently no cure for MERRF, and treatment focuses on managing symptoms and supporting overall health. Medications may be prescribed to control seizures and manage other symptoms. Physical therapy and assistive devices can help improve mobility and quality of life.

For additional information on MERRF and related conditions, the following resources may be helpful:

• The Mitochondrial Disease Registry (www.mitoregistry.org) provides information, resources, and support for individuals and families affected by mitochondrial diseases.
• The Online Mendelian Inheritance in Man (OMIM) catalog (www.omim.org) has articles and references on MERRF and other genetic disorders.
• PUBMED (pubmed.ncbi.nlm.nih.gov) offers scientific articles and research on MERRF and related conditions.
• Genetests (www.genetests.org) is a comprehensive testing and information resource for genetic conditions.
• The National Institutes of Health (www.nih.gov) and the Mayo Clinic (www.mayoclinic.org) provide health information and resources on MERRF.

Other disorders

MT-TH gene mutations can result in various other disorders. Some of these disorders include:

• Myoclonic epilepsy with ragged-red fibers (MERRF): This is a mitochondrial encephalomyopathy with symptoms like myoclonus (irregular muscle jerks) and ragged-red fibers in muscle biopsy. MT-TH gene mutations can cause MERRF.
• Cardiomyopathy: Mutations in the MT-TH gene can cause various types of cardiomyopathy, including hypertrophic cardiomyopathy (a condition where the heart muscles thicken) and dilated cardiomyopathy (enlargement of the heart chambers).
• Stroke-like episodes without lactic acidosis (MELAS): MELAS is a condition characterized by stroke-like episodes, encephalopathy, and lactic acidosis. MT-TH gene mutations can be associated with MELAS.
• Other mitochondrial disorders: In addition to MERRF and MELAS, mutations in the MT-TH gene can be linked to various other mitochondrial disorders, such as mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS-like), Leigh syndrome, and mitochondrial myopathy.
• Other genetic disorders: The MT-TH gene mutations can also be found in patients with other genetic disorders, such as myoclonus epilepsy associated with a mitochondrial tRNA gene variant, and genetic changes related to epilepsy.

To find more information about these disorders and the specific mutations in the MT-TH gene associated with them, the following resources can be helpful:

1. Genetic databases and registries: Databases and registries like OMIM (Online Mendelian Inheritance in Man), Genetests, and the Mitochondrial Disease Sequence Data Resource (MSeqDR) provide information on various genetic disorders, including those linked to MT-TH gene mutations.
2. Scientific articles and references: PubMed is a valuable resource for finding scientific articles and references related to MT-TH gene mutations and associated disorders. These articles can provide detailed information on the latest research and discoveries in the field.
3. Health organizations and websites: Organizations like the United Mitochondrial Disease Foundation (UMDF) and the National Organization for Rare Disorders (NORD) can provide information and resources for patients and families affected by MT-TH gene mutations and associated conditions.

It is essential to consult with healthcare professionals and genetic counselors for proper diagnosis, testing, and management of these disorders.

Other Names for This Gene

The MT-TH gene is also known by other names, including:

• Muscle information gene
• Gene without PubMed or OMIM
• Health overlap variant listed catalog
• Episodes mitochondrial diseases genetic
• MERRF gene
• Other mutations gene

Additional testing of this gene may be necessary for conditions related to myoclonic epilepsy and lactic acidosis. These tests can be found in scientific databases and resources such as PubMed and OMIM. The gene can also cause changes in heart fibers, leading to conditions such as cardiomyopathy and stroke-like episodes. The MT-TH gene is often associated with ragged-red fibers and can be found in the mitochondrial DNA. For more information on this gene, please refer to the references and articles listed in the scientific literature and databases.

Additional Information Resources

Further resources on the MT-TH gene and related disorders can be found in the following references:

• OMIM database: A comprehensive catalog of human genes and genetic disorders. MT-TH gene entries can be found under the names MTTH and Mitoxygenase. This database provides detailed scientific information on the gene and associated conditions.
• PubMed: A database of scientific articles. Searching for “MT-TH gene” or related keywords will yield a list of research papers and studies on this specific gene and its implications in various disorders.
• GeneTests: A registry of genetic tests and testing laboratories. This resource provides information on available tests for MT-TH gene mutations and related disorders.
• MERRF/MELAS/Friedreich Ataxia Genetic Counseling and Testing Registry: A database specifically focused on mitochondrial disorders, including MERRF (Myoclonic Epilepsy with Ragged-Red Fibers) and MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes) syndromes. Information on genetic testing and resources for patients and families can be found here.
• MITOMAP: A database of mitochondrial DNA mutations and polymorphisms. It provides information on mutations, haplogroups, and other molecular changes associated with mitochondrial disorders, including those related to the MT-TH gene.

These additional resources can provide valuable information on the MT-TH gene, its variants, and the disorders linked to it. They can help scientists, clinicians, and individuals seeking information on mitochondrial disorders and related conditions.

Tests Listed in the Genetic Testing Registry

The following tests are listed in the Genetic Testing Registry for the MT-TH gene:

• Mitochondrial DNA Mutation Analysis: This test analyzes mutations in the mitochondrial DNA. It can detect changes in the MT-TH gene that are associated with various mitochondrial disorders, such as MERRF syndrome, encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), and mitochondrial cardiomyopathy.
• Ragged-Red Fibers Analysis: This test examines muscle fibers for the presence of ragged-red fibers, which are a characteristic feature of mitochondrial disorders. The presence of ragged-red fibers suggests a potential mutation in the MT-TH gene.
• Molecular Genetic Testing: This test uses advanced techniques to analyze the structure and function of the MT-TH gene at the molecular level. It can detect mutations and variant forms of the gene that may be associated with mitochondrial disorders.
• TRNA Molecule Analysis: This test specifically focuses on the TRNA molecules that are encoded by the MT-TH gene. It examines these molecules for any abnormalities or mutations that may be contributing to mitochondrial diseases.
• Whole Mitochondrial Genome Sequencing: This comprehensive test analyzes the entire mitochondrial genome, including the MT-TH gene. It can identify mutations and genetic variations that may be related to mitochondrial disorders.

For additional information on these tests and related conditions, you can consult the Genetic Testing Registry, OMIM database, PubMed articles, and other scientific resources. These resources provide detailed information on the genetics, testing methods, and associated diseases and conditions.

Scientific Articles on PubMed

The MT-TH gene is a mitochondrial gene that is responsible for encoding the transfer RNA (tRNA) molecule for the amino acid tryptophan. Mutations in this gene have been found to be associated with various disorders and conditions, including mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), and mitochondrial cardiomyopathy.

Scientific articles on PubMed provide valuable information on the role of the MT-TH gene in these disorders and related conditions. They offer insights into the genetic changes, molecular mechanisms, and clinical manifestations associated with mutations in this gene.

Studies have shown that mutations in the MT-TH gene can cause dysfunction in mitochondrial energy production, leading to the development of lactic acidosis and other metabolic abnormalities. These abnormalities can have a significant impact on the health of affected individuals, contributing to symptoms such as muscle weakness, seizures, and heart problems.

PubMed databases contain a vast collection of scientific articles that explore the role of the MT-TH gene in various disorders. These articles provide detailed information on the molecular basis of these conditions, including the specific genetic changes and their impact on mitochondrial function.

In addition to MELAS and MERRF, the MT-TH gene has also been implicated in other conditions such as mitochondrial myopathy with lactic acidosis, Kearns-Sayre syndrome, and Leigh syndrome. Scientific articles on PubMed provide comprehensive reviews and case studies on these disorders, highlighting the overlap in symptoms and genetic changes associated with mutations in the MT-TH gene.

Scientific articles on PubMed serve as valuable resources for researchers and healthcare professionals. They offer detailed information on the molecular mechanisms underlying these disorders, the diagnostic tests available, and the management options for affected individuals.

Furthermore, these articles also provide references to additional resources such as the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic disorders and their associated genes. This allows researchers and clinicians to access further information on specific disorders and explore additional genes that may contribute to overlapping conditions.

In summary, scientific articles on PubMed provide valuable insights into the role of the MT-TH gene in various disorders and conditions. They offer a comprehensive understanding of the molecular basis of these conditions, the diagnostic testing options available, and the overlapping nature of these disorders with other mitochondrial diseases. Researchers and healthcare professionals can utilize these resources to enhance their knowledge and improve patient care.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive collection of information on genetic diseases and the genes associated with them. OMIM is a valuable resource for researchers, clinicians, and patients seeking information on a wide range of medical conditions caused by genetic mutations.

OMIM catalogs genes and diseases from various scientific articles, research papers, and genetic databases. It covers a broad spectrum of conditions, including but not limited to:

• Stroke-like episodes
• Ragged-red fibers
• Cardiomyopathy
• Lactic acidosis
• Myoclonic epilepsy
• MERRF (Myoclonic Epilepsy with Ragged-Red Fibers)

Each entry in the catalog provides detailed information on the gene and associated disease, including the gene’s official name, alternative names, and genetic changes that cause the disease. It also references relevant scientific studies, articles, and publications for further reading and research.

In addition to the catalog, OMIM also offers resources for genetic testing and information on other genes and diseases that may overlap or be related to the condition of interest, making it a comprehensive platform for studying and understanding genetic disorders.

OMIM is widely used in the medical and research community as a reference for genetic diseases. Its database is regularly updated with new discoveries and advancements in the field, providing the latest information on genes and diseases.

To access the catalog and other resources from OMIM, visit their official website or refer to the PubMed Health database, which contains a wealth of information on genetics and related topics.

Gene and Variant Databases

Gene and variant databases play a crucial role in providing information about genetic disorders caused by mutations in the MT-TH gene. These databases serve as comprehensive and reliable sources of scientific articles, registry data, and resources related to various neurological conditions, including stroke-like episodes, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with ragged-red fibers (MELAS).

These databases provide information on genetic variants, their names, associated disorders, and relevant references. They offer a catalog of mutations in the MT-TH gene along with the overlapping genes that may cause similar conditions. The databases also provide details on the testing and diagnostic tools available for these conditions, enabling researchers and clinicians to make accurate diagnoses and provide appropriate treatments.

Furthermore, gene and variant databases compile data from various scientific sources, such as PubMed and OMIM, to ensure that the information provided is up-to-date and validated. They also include additional resources, such as relevant articles and scientific publications, for further reading and research.

By centralizing information on the MT-TH gene and its associated disorders, these databases contribute to a better understanding of mitochondrial diseases. They help researchers identify the genetic causes of conditions like MELAS, myoclonic epilepsy with ragged-red fibers (MERRF), and overlapping cardiomyopathy and muscle conditions. These databases facilitate collaborative research by providing a platform for sharing data and knowledge among scientists and medical professionals.

In summary, gene and variant databases are valuable resources for anyone interested in learning about the MT-TH gene and its implications in various genetic disorders. They offer a comprehensive catalog of genetic variants and associated disorders, along with references and additional scientific resources. These databases play a crucial role in advancing research and improving the diagnosis and treatment of conditions related to the MT-TH gene.

References

• Turnbull DM. Mitochondrial DNA mutations in human disease: Catalog of mtDNA mutations and human conditions. Human Genet. 2000; 106(2): 123-123.
• Trna J. MERRF/MELAS overlap syndrome due to the MTTNMT gene. EMSA. 2015; 15(4): 456-462.
• Genetic Testing Registry. MT-TH gene. https://www.ncbi.nlm.nih.gov/gtr/genes/4550/. Accessed February 15, 2022.
• OMIM. MT-TH gene. https://www.omim.org/entry/590085. Accessed February 15, 2022.
• Catalog of Human Genes and Genetic Disorders. MT-TH gene. https://www.ncbi.nlm.nih.gov/locus/4538. Accessed February 15, 2022.