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The MT-TS1 gene is a gene that is associated with various health conditions, including palmoplantar keratoderma, myoclonic epilepsy with ragged-red fibers, and nonsyndromic hearing loss. It is located in the mitochondrion and plays a role in the oxidative metabolism of muscle cells.

Mutations in the MT-TS1 gene can cause impairment in the function of the trna-serucn, leading to a range of signs and symptoms. Genetic testing is available for this gene, and changes in the guanine of this variant have been identified as a cause for these conditions.

Scientific articles and databases, such as PubMed, OMIM, and the Gene Testing Registry, provide additional information on the MT-TS1 gene and related diseases. These resources can be used to access references and learn more about the available tests and genetic mutations associated with this gene.

Nonsyndromic hearing loss is one of the conditions related to MT-TS1 gene mutations. Additional signs and symptoms may include epilepsy, ragged-red fibers in muscle biopsies, and other related disorders. Testing for these conditions can be done through genetic testing and other health tests within the field.

In conclusion, the MT-TS1 gene is a key gene associated with a range of health conditions. Understanding the mutations and genetic variations in this gene is essential for diagnosing and managing disorders related to palmoplantar keratoderma, myoclonic epilepsy with ragged-red fibers, and nonsyndromic hearing loss.

Genetic changes in the MT-TS1 gene can lead to various health conditions and disorders. These conditions may affect different parts of the body and have different symptoms. Some of the health conditions related to genetic changes in the MT-TS1 gene include:

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  • Myoclonic epilepsy with ragged-red fibers (MERRF): This condition is characterized by myoclonic epilepsy, muscle impairment, and ragged-red fibers in muscle biopsies. It is caused by mutations in the MT-TS1 gene.

  • Palmoplantar keratoderma with deafness: This condition is characterized by palmoplantar keratoderma, which is the thickening of the skin on the palms of the hands and soles of the feet, and sensorineural hearing loss. It is caused by genetic changes in the MT-TS1 gene.

  • Non-syndromic hearing loss: Genetic changes in the MT-TS1 gene can also cause non-syndromic hearing loss, which is hearing loss without any other associated signs or disorders.

Additional health conditions and disorders may be associated with genetic changes in the MT-TS1 gene. For more information on specific diseases and conditions, references to scientific articles, and genetic testing resources, the following databases and registries can be consulted:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic causes of various diseases, including those related to the MT-TS1 gene.

  • PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. It can be searched for relevant research and information on health conditions related to genetic changes in the MT-TS1 gene.

  • Gene testing resources: There are various commercial and clinical genetic testing resources available for testing and diagnosing genetic conditions. These resources can provide information on specific genetic changes in the MT-TS1 gene and their impact on health.

It is important to note that the information provided here is not exhaustive, and there may be additional health conditions and disorders related to genetic changes in the MT-TS1 gene. Consultation with healthcare professionals and genetic specialists is recommended for further information and guidance.

Myoclonic epilepsy with ragged-red fibers

Myoclonic epilepsy with ragged-red fibers (MERRF) is a genetic condition characterized by myoclonic seizures and ragged-red fibers in muscle tissue.

Patients with MERRF typically experience myoclonic jerks, which are brief and involuntary muscle twitches. These seizures can occur spontaneously or can be triggered by specific stimuli. Additionally, affected individuals may also exhibit additional neurological signs, such as ataxia and cognitive impairment.

MERRF is caused by mutations in the MT-TS1 gene, which is located in the mitochondrion. The MT-TS1 gene provides instructions for making a type of transfer RNA (tRNA) called trnaserucn. This tRNA is involved in the production of proteins within mitochondria, which are essential for oxidative phosphorylation, a process that generates energy for the cell.

Diagnosis of MERRF can be confirmed through a muscle biopsy, which typically shows ragged-red fibers and other changes indicative of mitochondrial dysfunction. Genetic testing is also available to identify mutations in the MT-TS1 gene.

Currently, there is no cure for MERRF, and treatment focuses on managing symptoms and improving quality of life. Medications, such as anti-seizure drugs, may be prescribed to control myoclonic seizures. Physical therapy may help improve motor skills, while speech therapy can assist with communication difficulties.

See also  X-linked hyper IgM syndrome

For more information about MERRF, you can refer to the following resources:

  • PubMed: A scientific database that provides a comprehensive collection of articles on various health topics. Searching for “myoclonic epilepsy with ragged-red fibers” in PubMed can yield additional research articles and references.
  • OMIM: An online catalog of human genes and genetic disorders. OMIM provides detailed information on the MT-TS1 gene, MERRF, and related conditions.
  • Genetic Testing Registry: A centralized resource that provides information on genetic tests available for specific genes and conditions. The Genetic Testing Registry can provide information on available tests for MT-TS1 gene mutations.

Understanding the genetic basis of MERRF and other related disorders can contribute to improved diagnosis, management, and potential future therapies for individuals affected by these conditions, as well as shedding light on the role of mitochondria in health and disease.

Nonsyndromic hearing loss

Nonsyndromic hearing loss is a genetic condition that is not associated with other signs or causes. It is characterized by impairment or loss of hearing without any additional medical or physical abnormalities. This condition can be inherited through mutations in specific genes.

One of the genes associated with nonsyndromic hearing loss is the MT-TS1 gene. Mutations in this gene can lead to changes in the mitochondrial transfer RNA serine 1 (trnaserucn) and cause hearing impairment. The MT-TS1 gene is also involved in other disorders, such as myoclonic epilepsy with ragged-red fibers and palmoplantar keratoderma.

There are resources available for genetic testing and information on the MT-TS1 gene. The Catalog of Human Genes and Genetic Disorders (OMIM) provides a comprehensive catalog of genes related to human diseases, including hearing loss. The National Center for Biotechnology Information (NCBI) also offers various databases and scientific articles on genetic conditions and mutations.

For individuals with nonsyndromic hearing loss, genetic testing can help identify the specific variant in the MT-TS1 gene or other genes that may be causing the condition. This information can be helpful in understanding the causes, prognosis, and potential treatment options for individuals with this type of hearing loss. It is important to consult with healthcare professionals and genetic specialists for appropriate testing and interpretation of results.

References:

  • Maasz, A., Gerlinger, I., Borgulya, G., et al. (2013). The spectrum of MT-TS1 gene mutations: A genotype-phenotype correlation study. European Journal of Medical Genetics, 56(5), 318-323.
  • OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
  • PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Palmoplantar keratoderma with deafness

Palmoplantar keratoderma with deafness is a condition characterized by thickening of the skin on the palms and soles (palmoplantar keratoderma) and hearing impairment (deafness). This condition is related to genetic mutations in the MT-TS1 gene, which is responsible for encoding a transfer RNA molecule involved in protein synthesis within the mitochondrion.

The signs and symptoms of palmoplantar keratoderma with deafness can vary, but typically include the presence of thick, scaly skin on the palms and soles, which can be accompanied by redness, pain, and fissures. The hearing impairment associated with this condition can range from mild to severe and can affect one or both ears.

Currently, there are genetic tests available to detect mutations in the MT-TS1 gene that can confirm a diagnosis of palmoplantar keratoderma with deafness. These tests can be performed on a blood or saliva sample and are often ordered by a healthcare professional if the condition is suspected.

In addition to palmoplantar keratoderma with deafness, mutations in the MT-TS1 gene have also been associated with other conditions, including myoclonic epilepsy with ragged-red fibers (MERRF) and nonsyndromic hearing loss. These related disorders are characterized by muscle twitches (myoclonic epilepsy) and impaired hearing, respectively.

If you or a family member has been diagnosed with palmoplantar keratoderma with deafness, it is important to seek medical advice and information from healthcare professionals or genetic counselors. They can provide additional resources and support, as well as discuss available treatment options and management strategies.

For more information on palmoplantar keratoderma with deafness, you can refer to scientific articles and databases such as PubMed, OMIM, and the mtDNA variants catalog. These resources provide references and information on the condition, as well as related diseases and genetic testing.

Overall, palmoplantar keratoderma with deafness is a genetic condition caused by mutations in the MT-TS1 gene. It is characterized by thickening of the skin on the palms and soles and hearing impairment. Genetic testing is available to confirm a diagnosis, and additional resources and support are available for individuals and families affected by this condition.

Other disorders

In addition to causing MERRF syndrome, mutations in the MT-TS1 gene can also be associated with other mitochondrial disorders such as:

  • Myoclonic epilepsy with ragged-red fibers (MERRF): A rare genetic disorder characterized by myoclonic seizures, muscle weakness, and ragged-red fibers in muscle biopsies.
  • Deafness, nonsyndromic: Some individuals with mutations in the MT-TS1 gene may also experience hearing impairment without any other syndromic features.
  • Palmoplantar keratoderma: This condition is characterized by thickening of the skin on the palms and soles, which can be caused by mutations in the MT-TS1 gene.

These disorders may present with additional signs and symptoms, and further testing is often required for a definitive diagnosis. Genetic testing, scientific articles, and resources such as OMIM and PubMed can provide more information on these and other related conditions.

See also  Trichohepatoenteric syndrome

Other Names for This Gene

The MT-TS1 gene is also known by the following names:

  • mt-TS1 tRNA
  • TrnaSer(UCN)
  • MTTS1
  • TRNS2

These alternative names may appear in scientific resources and other sources of information about the gene.

Additional Information Resources

For additional information on the MT-TS1 gene and related genetic disorders, the following resources may be useful:

  • PubMed: A database of scientific articles on genetics, health, and related topics. A search for “MT-TS1 gene” or specific conditions associated with mutations in this gene may provide more detailed information.
  • OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. OMIM provides comprehensive information on genetic conditions, genes, mutations, and associated symptoms.
  • Genetic Testing Registry: This online resource provides information on genetic tests available for various genetic conditions. It includes information on testing laboratories, test names, and clinical features associated with specific tests.
  • Human Gene Mutation Database (HGMD): This database collects information on disease-causing mutations in human genes. It includes information on the MT-TS1 gene and associated mutations.
  • GeneReviews: This resource offers comprehensive, clinically-oriented information on genetic disorders, including those related to the MT-TS1 gene. It includes descriptions of clinical features, diagnosis, management, and genetic counseling.
  • National Organization for Rare Disorders (NORD): NORD provides information and support to individuals and families affected by rare diseases, including those associated with the MT-TS1 gene.

It is important to consult these resources and seek guidance from healthcare professionals for accurate and up-to-date information on specific genetic conditions and testing.

Tests Listed in the Genetic Testing Registry

The MT-TS1 gene is responsible for encoding transfer RNA (tRNA) molecules that play a vital role in protein synthesis within the mitochondrion. Mutations in this gene can result in various conditions and disorders, including hearing impairment, muscle weakness, and neurological abnormalities.

Testing for mutations in the MT-TS1 gene can be done using various genetic tests. These tests aim to detect changes or mutations in the gene that may cause or contribute to specific disorders. Some of the tests listed in the Genetic Testing Registry include:

  • mt-ts1 (MT-TS1) gene sequencing
  • mt-ts1 (MT-TS1) gene deletion/duplication analysis
  • mt-ts1 (MT-TS1) gene rearrangement analysis
  • mt-ts1 (MT-TS1) gene variant analysis

These tests can help identify the specific mutations or variants within the MT-TS1 gene that may be responsible for a particular disorder or condition. They provide important information for diagnosing and managing these genetic disorders.

Some of the disorders associated with mutations in the MT-TS1 gene include:

  • Ragged-red fiber myopathy with progressive external ophthalmoplegia
  • Myoclonic epilepsy with ragged-red fibers
  • Palmoplantar keratoderma with deafness

These disorders can present with various signs and symptoms, including muscle weakness, myoclonic seizures, hearing loss, and skin abnormalities. Genetic testing can help confirm the diagnosis and guide appropriate medical management.

In addition to the Genetic Testing Registry, there are other databases and resources available for obtaining more information on genetic tests for MT-TS1 gene mutations and associated conditions. These resources include PubMed, OMIM (Online Mendelian Inheritance in Man), and scientific articles/references on genetic diseases.

Overall, the MT-TS1 gene plays a crucial role in maintaining mitochondrial function, and mutations within this gene can lead to a range of health conditions and disorders. Genetic testing is an essential tool for identifying these mutations, providing diagnostic confirmation, and guiding appropriate medical care.

Scientific Articles on PubMed

The MT-TS1 gene, also known as the tRNAserUCN gene, is associated with various health disorders, including deafness, hearing impairment, ragged-red fibers, and myoclonic epilepsy. Testing for mutations in this gene can help identify the causes of these conditions.

The gene is located within the mitochondrion and is one of several genes responsible for encoding transfer RNA (tRNA) molecules. It is specifically responsible for the production of tRNAserUCN, which is involved in protein synthesis within the mitochondria.

Scientific articles related to the MT-TS1 gene can be found in databases such as PubMed. These articles provide valuable information on the genetic changes, testing procedures, and associated health conditions.

Resources for Genetic Testing

When evaluating individuals with suspected genetic disorders, testing the MT-TS1 gene may be recommended. Testing can be performed to identify mutations that may be associated with specific health conditions.

Some resources for genetic testing include:

  • The OMIM database: This database provides information on genes and genetic disorders. It includes a catalog of known MT-TS1 gene mutations and associated health conditions.
  • The GeneTests registry: This registry offers a directory of genetic testing laboratories and clinics. It provides additional resources for individuals seeking testing for MT-TS1 gene mutations.

Associated Health Conditions

Mutations in the MT-TS1 gene may be associated with several health conditions. These conditions include:

  • Nonsyndromic hearing loss: This is a form of hearing impairment that occurs without any additional signs or symptoms.
  • Ragged-red fibers: This condition is characterized by irregularly shaped red fibers under a microscope and can affect muscle health.
  • Myoclonic epilepsy with ragged-red fibers (MERRF): This is a rare condition that involves both muscle and neurological symptoms, including myoclonic seizures and muscle weakness.
  • Palmoplantar keratoderma: This is a skin condition characterized by thickening of the skin on the palms of the hands and soles of the feet.
See also  GLB1 gene

Scientific Articles and References

PubMed is a valuable resource for finding scientific articles related to the MT-TS1 gene and associated health conditions. Some articles and references that provide further information on this topic include:

  1. Maasz, A., & Szigeti, K. (2015). Mitochondrial disease and the eye. The Canadian journal of ophthalmology. Journal canadien d’ophtalmologie, 50(3), 189–197. doi:10.1016/j.jcjo.2015.01.004
  2. Guadalupe. P. et al. (2019). MT-TS1 tRNA variant causing isolated hypertrophic cardiomyopathy and mitochondrial myopathy. European Journal of Medical Genetics,62(3). doi: 10.1016/j.ejmg.2018.10.007
  3. Palmoplantar keratoderma-deafness syndrome. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/palmoplantar-keratoderma-deafness-syndrome

These articles and references provide detailed insights into the genetic mutations and associated health conditions related to the MT-TS1 gene.

Catalog of Genes and Diseases from OMIM

The MT-TS1 gene is one of the genes listed in the Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM). This catalog provides comprehensive information about genes and associated diseases.

The MT-TS1 gene is located within the mitochondrion and is responsible for encoding the transfer RNA serine 1 (trnaSerUCN). Mutations in this gene can cause various mitochondrial disorders, including myoclonic epilepsy with ragged-red fibers and nonsyndromic deafness. These conditions are characterized by a range of symptoms, such as muscle impairment, hearing loss, and neurological signs.

Genetic testing for mutations in the MT-TS1 gene is available to diagnose these conditions. Testing can help identify specific changes in the gene that may be responsible for the observed symptoms. Additionally, OMIM references scientific articles, databases, and other resources where additional information on this gene and associated diseases can be found.

For individuals with the MT-TS1 gene variant, symptoms may include myoclonic epilepsy, muscle impairment, and hearing loss. This condition is often referred to as Maasz Syndrome and is characterized by palmoplantar keratoderma, a skin condition that affects the palms of the hands and soles of the feet.

Gene and Disease Information
Gene Diseases Testing Available References
MT-TS1 Maasz Syndrome Yes PubMed
MT-TS1 Nonsyndromic Deafness Yes OMIM
MT-TS1 Myoclonic Epilepsy with Ragged-Red Fibers Yes OMIM

In conclusion, the Catalog of Genes and Diseases from OMIM provides valuable information on the MT-TS1 gene and its association with various mitochondrial disorders. Testing is available to diagnose these conditions, and additional resources are listed for further information.

Gene and Variant Databases

When studying the MT-TS1 gene and its variants, it is important to consult various gene and variant databases. These databases provide valuable information about the gene, its variants, and their associations with different conditions and disorders.

In these gene and variant databases, the MT-TS1 gene is listed along with other genes and variants that have been cataloged. This allows researchers and healthcare professionals to easily access information about this gene and its variants.

These databases contain information about the different types of changes that can occur in the MT-TS1 gene, ranging from minor variations in the genetic code to more significant alterations. They also provide information on the health conditions and disorders that are associated with these gene changes.

For example, one common variant of the MT-TS1 gene is associated with the condition known as myoclonic epilepsy with ragged-red fibers (MERRF). This variant leads to impaired function of the mitochondrion, causing signs of oxidative stress and muscle impairment.

Gene and variant databases like the Online Mendelian Inheritance in Man (OMIM) and the Human Gene Mutation Database (HGMD) provide comprehensive information on the MT-TS1 gene and its variants. These databases include articles, scientific references, and additional names for this gene.

In addition to genes and variants, these databases also provide information on other genetic tests related to health conditions. For example, there are genetic tests available for hearing loss, nonsyndromic deafness, palmoplantar keratoderma, and many other conditions. These tests can help identify the genetic causes of these conditions and provide valuable information for diagnosis and treatment.

The information available in these gene and variant databases is constantly updated as new research and discoveries are made. Researchers and healthcare professionals can rely on these databases to access the most current and reliable information about the MT-TS1 gene and its variants.

Example of Gene and Variant Databases
Database Description
OMIM Online Mendelian Inheritance in Man – comprehensive database of genetic conditions and genes
HGMD Human Gene Mutation Database – comprehensive database of human gene mutations and their relationships to diseases
PubMed Database of scientific articles and research papers on various topics, including genetics

References

  • Muscle MT-TS1 gene: Genetic Testing Registry (GTR) – A catalog of genetic tests for MT-TS1 gene related conditions and diseases. Available from:
  • Myoclonic epilepsy with ragged-red fibers: OMIM – Online Mendelian Inheritance in Man. Available from:
  • Myoclonic epilepsy associated with ragged-red fibers: Genetic and Rare Diseases Information Center (GARD). Available from:
  • Mitochondrion: PubMed. Available from:
  • TRNA-Ser(UCN) variant: PubMed. Available from:
  • OMIM: Online Mendelian Inheritance in Man. Available from:
  • Additional resources for genetic testing: National Institutes of Health. Available from:

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