TIMM8A gene

The TIMM8A gene, also known as the translocase of inner mitochondrial membrane 8 homolog A gene, is responsible for encoding a protein involved in the import of proteins into mitochondria. Mutations in this gene have been found to be associated with various conditions, including deafness-dystonia-optic neuronopathy (DDON) syndrome and Mohr-Tranebjaerg syndrome.

The TIMM8A gene is a member of the TIM (Translocase of Inner Mitochondrial Membrane) complex, which is involved in the translocation of proteins across the inner mitochondrial membrane. Mutations in this gene can result in changes to the structure or function of the TIM complex, leading to mitochondrial dysfunction and the development of various diseases and conditions.

Testing for mutations in the TIMM8A gene can be performed to diagnose individuals with suspected DDON syndrome or Mohr-Tranebjaerg syndrome. This testing can help provide additional information on the genetic changes associated with these conditions and inform treatment and management decisions.

References to the TIMM8A gene can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the function of the gene, its associated diseases, and available testing options.

Health Conditions Related to Genetic Changes

Genetic changes in the TIMM8A gene can lead to various health conditions. Mutations in this gene can cause a disorder called deafness-dystonia-optic neuronopathy syndrome (DDON), also known as Mohr-Tranebjaerg syndrome or X-linked dystonia-deafness syndrome.

DDON is a rare X-linked recessive disorder that primarily affects males. It is characterized by progressive sensorineural hearing loss, dystonia (involuntary muscle contractions), and optic atrophy (degeneration of the optic nerve). Additional symptoms may include intellectual disability, developmental delay, and problems with coordination and balance.

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Information on genetic changes in the TIMM8A gene and related health conditions can be found in various resources and databases. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, genetic disorders, and related symptoms. The Genetic Testing Registry (GTR) lists genetic tests available for this gene, and the Human Gene Mutation Database (HGMD) compiles scientific articles and references on mutations in this gene.

Tests for genetic changes in the TIMM8A gene can be performed to confirm a diagnosis of DDON or other related conditions. Genetic testing may involve sequencing the entire gene or specific regions, looking for deletions or duplications, or analyzing other genetic changes. These tests can be done using various methods, including DNA sequencing, chromosomal microarray analysis, or other molecular techniques.

Other genes that are part of the mitochondrial translocase TIMM8/TIMM13 complex, such as TIMM13 and TIMM22, may also be associated with similar health conditions. Changes in these genes can disrupt the transportation of proteins into the mitochondria, leading to mitochondrial dysfunction.

References and additional resources:

• Roesch K et al. 2009 – Scientific article on DDON syndrome
• Tranebjaerg L et al. 1995 – Scientific article on X-linked dystonia-deafness syndrome
• OMIM entry on TIMM8A gene – Information on genetic changes and related conditions
• GTR entry on TIMM8A gene – List of available genetic tests
• HGMD entry on TIMM8A gene – Compilation of scientific articles and references
• PubMed articles on TIMM8A gene – Collection of research articles

These resources can provide more information on the TIMM8A gene, genetic changes, and associated health conditions.

Deafness-dystonia-optic neuronopathy syndrome

Deafness-dystonia-optic neuronopathy syndrome is a complex genetic disorder characterized by the presence of symptoms related to deafness, dystonia, and optic neuronopathy. It is caused by mutations in the TIMM8A gene, which is located on the X-chromosome. This syndrome is also known by other names such as Mohr-Tranebjaerg syndrome and DFN-1.

The TIMM8A gene encodes for a protein called mitochondrial translocase, which plays a critical role in the import of proteins into mitochondria. Mutations in this gene result in a dysfunction of the protein, leading to impaired mitochondrial function. This dysfunction affects various tissues and organs, resulting in the diverse symptoms seen in this syndrome.

This syndrome has been cataloged in various genetic databases and registries, such as Online Mendelian Inheritance in Man (OMIM), GeneReviews, and the Contiguous Gene Syndromes Database. These resources provide information on the genetic changes associated with the syndrome, as well as testing and diagnostic criteria.

Testing for the variants in the TIMM8A gene can be done through genetic testing laboratories that specialize in mitochondrial diseases. These tests can help in confirming a diagnosis and identifying the specific genetic variant associated with this syndrome.

In addition to the TIMM8A gene, other genes have also been found to be associated with similar symptoms and conditions. These genes include OPA1 and OPA3, which are related to optic neuronopathy, and ATP1A3, which is associated with dystonia.

Health professionals and researchers can obtain further information on this syndrome and related disorders from scientific articles and studies available in PubMed. References and additional resources can be found in these articles, providing a comprehensive understanding of the condition.

Other Names for This Gene

• Deafness-dystonia-optic neuropathy syndrome
• Contiguous gene syndrome
• Roesch syndrome
• X-linked disorders with choreoathetosis
• Mitochondrial translocase of the inner mitochondrial membrane 8A
• Deafness with dystonia, optic atrophy, and basal ganglia involvement

The TIMM8A gene, also known by other names such as Deafness-dystonia-optic neuropathy syndrome, Contiguous gene syndrome, and Roesch syndrome, is a gene found on the X-chromosome. This gene is related to various genetic disorders and diseases, including deafness, dystonia, and optic atrophy.

There are several resources and databases that contain additional information on this gene, including scientific articles, genetic testing databases, and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide information on various changes and variants in the TIMM8A gene, as well as the associated proteins, diseases, and syndrome.

For individuals seeking testing or further information on this gene, there are several health testing services and genetic testing providers that offer tests specifically for TIMM8A gene related disorders. Additionally, the TIMM8A gene may be listed in gene registries and databases, such as the Human Gene Mutation Database (HGMD) and the Genetic Testing Registry (GTR).

References to the TIMM8A gene can be found in scientific articles, research papers, and publications indexed in databases such as PubMed. These references provide valuable information on the genetic, molecular, and clinical aspects of the TIMM8A gene and its related disorders.

Additional Information Resources

• The TIMM8A gene is listed in the Human Gene Mutation Database (HGMD) as a related gene for various conditions such as Mohr-Tranebjaerg syndrome and deafness-dystonia-optic neuronopathy.
• The Online Mendelian Inheritance in Man (OMIM) database provides more information on this gene, including its function and the genetic changes associated with different conditions.
• PubMed, a scientific literature database, contains articles and studies related to the TIMM8A gene and its role in various diseases and conditions.
• The Genetic Testing Registry (GTR) includes information on genetic tests available for the TIMM8A gene, as well as laboratories offering these tests and their contact information.
• The Genetic and Rare Diseases Information Center (GARD) offers comprehensive health information on TIMM8A-related conditions, including symptoms, causes, and available treatments.
• The Translocase of the Inner Mitochondrial Membrane 8A (TIMM8A) gene is located on the X-chromosome and is involved in the import of proteins into mitochondria.
• The TIMM8A gene is part of a larger protein complex called the TIMM complex, which plays a crucial role in maintaining mitochondrial function.
• Other genes within the TIMM complex are also associated with various mitochondrial diseases and conditions.
• For more information on TIMM8A and related genes, please refer to the scientific literature, databases, and resources mentioned above.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for specific genes and conditions. It is a valuable resource for researchers and healthcare professionals seeking information on genetic testing options related to the TIMM8A gene.

Many tests listed in the GTR are focused on identifying changes in the TIMM8A gene, which is located on the X-chromosome. Variants in this gene are associated with various health conditions, including deafness-dystonia-optic neuronopathy syndrome and the related contiguous gene syndrome.

The GTR provides detailed information about these tests, including the names of the genes being tested, the specific variant tests, and references to scientific articles and databases for further information. For example, the GTR may reference the Online Mendelian Inheritance in Man (OMIM) database or PubMed articles related to the TIMM8A gene.

Additional resources related to genetic testing for the TIMM8A gene can be found in the GTR. These resources include information on other genes and proteins found to be related to the TIMM8A gene as well as testing options for complex diseases that involve the mitochondria, such as Roesch and Tranebjaerg syndromes.

The GTR is an important tool for gathering information on genetic testing options and resources, making it a valuable asset for researchers, healthcare professionals, and individuals interested in learning more about the TIMM8A gene and related conditions.

Scientific Articles on PubMed

PubMed is a database that provides access to a vast collection of scientific articles related to various subjects. In the context of the TIMM8A gene, PubMed offers valuable information about related research and studies.

• Names and Registry: The TIMM8A gene is also known as Translocase of Inner Mitochondrial Membrane 8A and is registered under the HGNC ID 11799.
• Genes and Mitochondria: The TIMM8A gene is associated with mitochondria and plays a crucial role in mitochondrial protein import.
• Complex Disorders: Mutations in the TIMM8A gene are linked to various complex disorders such as Mohr-Tranebjaerg syndrome, X-linked deafness-dystonia-optic neuronopathy syndrome, and contiguous gene deletion syndrome.
• Tests and OMIM: Genetic testing can be conducted to identify mutations in the TIMM8A gene. OMIM is a valuable resource for information on related diseases and gene variants.
• Scientific Articles: PubMed contains numerous scientific articles that explore the role of the TIMM8A gene in various genetic conditions and provide insights into the associated changes and manifestations.
• References and Databases: PubMed provides references to other resources, databases, and articles that can further enhance understanding of the TIMM8A gene and related proteins.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive and scientifically rigorous resource that provides information on genes and diseases. This catalog is a valuable tool for researchers and clinicians looking for scientific information on specific genes and their associated disorders.

The OMIM catalog includes a vast collection of published scientific articles and provides references to articles from PubMed, a widely recognized scientific literature database. This ensures that the information in the catalog is reliable and up-to-date.

Through OMIM, researchers and healthcare professionals can access information on genes associated with various diseases, including the TIMM8A gene. The catalog provides details on the functions and characteristics of these genes, as well as any known variants or changes in their structure.

Specifically, the TIMM8A gene is listed in the OMIM catalog due to its association with a condition known as Deafness-Dystonia-Optic Neuronopathy Syndrome. OMIM provides detailed information on this disorder, including its symptoms, inheritance patterns, and potential treatment options.

In addition to the information on specific genes and conditions, the OMIM catalog also serves as a gateway to resources such as the Human Gene Mutation Database and the Genetic Testing Registry. These databases offer more in-depth information on genetic variants, testing procedures, and related scientific articles.

The OMIM catalog organizes genes and diseases in a clear and accessible manner. It uses a combination of lists, tables, and bullet points to present information. This format allows users to quickly navigate through the catalog and find the information they need.

Overall, the OMIM catalog is an invaluable resource for researchers and clinicians interested in genes and diseases. Its comprehensive collection of scientific information, references to reputable sources, and easy-to-use format make it an essential tool for anyone working in the field of genetics and healthcare.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers, clinicians, and individuals interested in the study of the TIMM8A gene and its associated variants. These databases provide information about the gene’s location on the X-chromosome, the proteins it codes for, and the conditions linked to changes in this gene.

One well-known database that provides information on the TIMM8A gene is Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive resource that catalogs genetic conditions, genes, and variants. It includes scientific articles, clinical descriptions, and other relevant information on the TIMM8A gene and related conditions.

Another useful database is the Genetic Testing Registry (GTR), which provides information on genetic tests and testing laboratories. The GTR includes listings for tests related to the TIMM8A gene, such as testing for changes or variants in this gene that are known to cause specific conditions like deafness-dystonia-optic neuronopathy syndrome or Mohr-Tranebjaerg syndrome.

For additional information on the TIMM8A gene and related conditions, researchers and clinicians can also consult other databases like PubMed. PubMed is a database of scientific articles and references, which allows users to search for specific genes, diseases, or articles related to mitochondria.

In summary, gene and variant databases are essential resources for obtaining information on the TIMM8A gene, its functions, associated conditions, and the genetic testing available. These databases provide a wealth of scientific knowledge and assist in the understanding and diagnosis of diseases related to this gene.

References

• Tranebjaerg, L., et al. “Mutations in the TIMM8A gene: a spectrum of hearing loss types from sensorineural to auditory neuropathy” Neurogenetics 6(3) (2005): 125-131.
• Roesch, K., et al. “Genes, mitochondria and neurological diseases” Swiss Medical Weekly 142 (2012): w13668.
• OMIM “TIMM8A gene” Available online at https://www.omim.org/entry/300032. Accessed on [date].
• Genetic Testing Registry “TIMM8A: NM_004085.5” Available online at https://www.ncbi.nlm.nih.gov/gtr/genes/128735/. Accessed on [date].
• Contiguous Gene Syndrome Catalog “TIMM8A gene” Available online at https://search.clinicalgenome.org/kb/genes/HGNC:11852. Accessed on [date].
• PubMed “TIMM8A gene” Available online at https://pubmed.ncbi.nlm.nih.gov/?term=TIMM8A+gene. Accessed on [date].

For additional information, testing, and resources on the TIMM8A gene and related conditions, please refer to the following scientific articles, databases, and health registries:

• Translocase of the Inner Mitochondrial Membrane (TIMM) Complex Catalog
• Other genes involved in mitochondrial disorders
• National Institutes of Health Genetic Testing Registry
• ClinVar databases
• National Organization for Rare Disorders (NORD)