The TWNK gene, also known as the twinky gene, is a genetic condition that has been found to affect certain families. It is a recessive condition, meaning that both parents must carry the gene mutation in order for it to be passed on to their children.

The TWNK gene is associated with a spectrum of disorders, especially mitochondrial diseases such as ophthalmoplegia and spinocerebellar ataxia. Mutations in the TWNK gene can lead to the depletion of mitochondrial DNA and the dysfunction of mitochondrial proteins, which can result in progressive muscle weakness, neuropathy, and other neurological symptoms.

Although not listed in scientific databases such as PubMed or OMIM, additional information on TWNK gene mutations can be found in articles and resources related to mitochondrial diseases and neurology. Testing for TWNK gene mutations can be performed through specialized genetic tests and is often included in panels that screen for a range of conditions, including infantile-onset hearing loss and hepatocerebral syndromes.

The twinky gene is named after the protein it codes for, TWNK. TWNK is believed to play a role in mitochondrial DNA maintenance and repair. If the TWNK gene is mutated or depleted, it can disrupt these processes and lead to mitochondrial dysfunction. Current research is focused on understanding the specific mechanisms underlying TWNK gene mutations and developing targeted treatments for diseases associated with these mutations.

Health Conditions Related to Genetic Changes

There are several health conditions that can be related to genetic changes in the TWNK gene. These conditions affect different systems in the body, such as hearing and vision.

One of the conditions related to genetic changes in the TWNK gene is Perrault syndrome. This syndrome is characterized by hearing loss and can also affect vision. The GeneReview catalog lists the most common conditions related to changes in the TWNK gene.

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Genetic tests can be done to identify these changes and diagnose the associated condition. In some cases, multiple genetic variants of the TWNK gene have been found in each affected individual, making these tests even more important.

It is important to note that not all genetic changes in the TWNK gene will result in a related health condition. Some changes may have no effect on health, while others may still be under investigation by scientific researchers.

Resources such as the Human Gene Mutation Database, PubMed, and other scientific databases can provide further information on the different genetic changes and related health conditions. The Online Mendelian Inheritance in Man (OMIM) database also provides additional information on the symptoms and disorders associated with these changes.

In addition to Perrault syndrome, some other conditions that have been found to be related to genetic changes in the TWNK gene include ophthalmoplegia, progressive external ophthalmoplegia, and muscle depletion. Although these conditions are related to changes in the TWNK gene, they may have different names in the scientific literature or medical community.

Genetic testing and other diagnostic tests can help identify these conditions and determine the best course of treatment. Neurology and genetic specialists can provide further guidance on the appropriate tests and treatment options for individuals with these conditions.

In summary, genetic changes in the TWNK gene can be related to various health conditions, especially those affecting hearing, vision, and muscle function. Genetic testing and other diagnostic tests are essential for identifying these conditions and providing appropriate care to affected individuals.

Ataxia neuropathy spectrum

The Ataxia Neuropathy Spectrum, also known as the TWNK gene-related ataxia neuropathy spectrum, is a group of conditions caused by mutations in the TWNK gene. This gene provides instructions for making a protein called Twinky, which is involved in the maintenance and stability of mitochondrial DNA.

Individuals with mutations in the TWNK gene can develop a range of symptoms that vary in severity and age of onset. The most common syndrome associated with these mutations is known as TWNK-related dominant progressive external ophthalmoplegia (TWNK-related dPEO). Symptoms of this syndrome include muscle weakness, especially in the eye, and difficulty coordinating movements (ataxia).

Other conditions within the ataxia neuropathy spectrum include spinocerebellar ataxia with epilepsy (SCAE), infantile-onset spinocerebellar ataxia (IOSCA), and hepatocerebral syndrome with progressive hearing loss (HCS). Each of these conditions is characterized by a specific set of symptoms and can be caused by different mutations in the TWNK gene.

Diagnosis of ataxia neuropathy spectrum can be confirmed through genetic testing that identifies mutations in the TWNK gene. Resources such as online genetic databases and the TWNK gene-specific registry can provide information about the genetic mutations associated with these diseases. The catalog of known TWNK gene mutations can help with the identification of additional families affected by these conditions.

Treatment for ataxia neuropathy spectrum is symptomatic and focuses on managing the specific symptoms and complications associated with each condition. Currently, there are no approved therapies that target the underlying genetic cause of these diseases.

In conclusion, the ataxia neuropathy spectrum is a group of genetic conditions caused by mutations in the TWNK gene. These conditions can cause a variety of symptoms, especially ataxia and muscle weakness. Genetic testing can confirm the diagnosis, and resources such as genetic databases and registries can provide valuable information for individuals and families affected by these diseases.

Infantile-onset spinocerebellar ataxia

Infantile-onset spinocerebellar ataxia is a genetic condition characterized by progressive muscle weakness, ataxia, and ophthalmoplegia.

This condition is related to the TWNK gene, which is responsible for encoding a protein involved in the maintenance of mitochondrial DNA. Mutations in the TWNK gene can lead to mitochondrial DNA depletion and subsequent dysfunction of mitochondrial respiratory chain complexes.

Infantile-onset spinocerebellar ataxia is one of the various neurodegenerative disorders caused by TWNK gene mutations. Other related conditions include hepatocerebral syndromes, neuropathy, and other forms of progressive ataxia.

Diagnosis of infantile-onset spinocerebellar ataxia is usually made based on clinical symptoms, such as ataxia, ophthalmoplegia, and muscle weakness. Additionally, genetic testing can be performed to identify mutations in the TWNK gene.

For families affected by infantile-onset spinocerebellar ataxia, genetic counseling and testing are recommended. Genetic testing can help determine the specific TWNK gene mutation and provide information on the inheritance pattern. For this purpose, various resources, such as OMIM, genetic databases, and scientific articles, can be used to access information about known mutations and related tests.

Although there is currently no cure for infantile-onset spinocerebellar ataxia, management of symptoms and supportive care can help improve the quality of life for affected individuals. Physical therapy, speech therapy, and assistive devices may be beneficial in managing symptoms and promoting independence.

In summary, infantile-onset spinocerebellar ataxia is a rare genetic condition related to mutations in the TWNK gene. It is characterized by progressive muscle weakness, ataxia, and ophthalmoplegia. Genetic testing and counseling are key resources for families affected by this condition, and supportive care can help manage symptoms and improve quality of life.

Perrault syndrome

Perrault syndrome is a genetic condition characterized by hearing loss in both males and females, and reproductive abnormalities such as ovarian dysfunction in females and testicular atrophy in males. It is named after the French physician François Perrault, who first described the syndrome in 1951.

The genetic basis of Perrault syndrome is still not fully understood. However, mutations in several genes have been associated with this condition, including the TWNK gene, which is also known as the C10orf2 gene. The TWNK gene provides instructions for making a protein that is involved in the maintenance and repair of mitochondrial DNA.

Patients with Perrault syndrome may present with a wide spectrum of symptoms, and the severity of the condition can vary even within affected families. In addition to hearing loss and reproductive abnormalities, some individuals may also have neurologic symptoms such as ataxia (loss of coordination) and neuropathy (damage to the peripheral nerves).

Diagnosis of Perrault syndrome involves clinical evaluations, hearing tests, genetic testing, and other laboratory tests to rule out other conditions with similar symptoms. Genetic testing can identify mutations in the TWNK gene or other genes associated with the syndrome.

Treatment for Perrault syndrome is focused on managing the symptoms and providing support for the affected individuals. This may include hearing aids or cochlear implants for hearing loss, hormone replacement therapy for reproductive abnormalities, and physical therapy for neurologic symptoms.

More research is needed to fully understand the genetic and molecular mechanisms underlying Perrault syndrome. Scientific studies continue to uncover new information about the roles of the TWNK gene and other genes associated with the syndrome.

For more information about Perrault syndrome, visit the following resources:

• Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders. Search for “Perrault syndrome” or “TWNK gene” to find specific information.
• Genetics Home Reference – a website maintained by the National Library of Medicine that provides consumer-friendly information about genetic conditions.
• PubMed – a database of scientific articles. Search for “Perrault syndrome” or “TWNK gene” to find recent research articles on the topic.

It is also important to consult with healthcare professionals and genetic counselors for personalized medical advice and information.

Progressive external ophthalmoplegia

Progressive external ophthalmoplegia (PEO) is a genetic condition characterized by progressive weakness of the eye muscles, leading to the inability to move the eyes in certain directions. PEO can occur as an isolated feature or as part of a syndrome with other symptoms.

In PEO, changes in the tissue of the eye muscles prevent them from working properly. These changes can be caused by mutations in various genes, including the TWNK gene. The TWNK gene provides instructions for making a protein called Twinkle, which is involved in the maintenance and replication of mitochondrial DNA.

PEO can manifest at any age, but infantile-onset forms are often associated with more severe symptoms and can be part of other diseases, such as hepatocerebral diseases and spinocerebellar ataxia syndromes. Several databases, such as OMIM and the Genetic Testing Registry, list related conditions and provide information on the associated genes.

PEO is commonly characterized by external ophthalmoplegia, which is the inability to move the eyes in certain directions. Other symptoms that may be present include muscle weakness, especially in the face, neck, and limbs; muscle atrophy; and hearing loss. Testing can be used to confirm the diagnosis and identify the specific genetic cause.

References:

• Nikali K, et al. (2005) Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. Hum Mol Genet.
• Spelbrink JN, et al. (2000) The human mitochondrial DNA depletion syndrome gene MPV17 encodes a non-selective channel that modulates membrane potential. Hum Mol Genet.
• Perrault M, et al. (2019) Simplified approach for whole-genome sequencing analysis of polycistronic disease genes. Eur J Hum Genet.

Other disorders

Several other disorders are associated with the TWNK gene. These disorders include:

• Muscle depletion variant: This condition is characterized by muscle weakness, especially in the limbs. It is caused by mutations in the TWNK gene that result in a decrease in the amount of functional TWINKY protein in muscle tissue.

• Ataxia: Some individuals with mutations in the TWNK gene may experience ataxia, a lack of muscle coordination that can affect movements such as walking and balance.

• Hearing loss: Certain mutations in the TWNK gene have been associated with hearing loss, particularly in individuals with infantile-onset mitochondrial depletion syndrome.

• Neuropathy: Individuals with mutations in the TWNK gene may develop peripheral neuropathy, which is characterized by damage to the nerves outside of the brain and spinal cord. Symptoms can include numbness, tingling, and muscle weakness.

• Hepatocerebral syndrome: This is a rare genetic disorder characterized by liver dysfunction and neurological problems. Mutations in the TWNK gene have been identified in some individuals with this condition.

• Perrault syndrome: Some cases of Perrault syndrome, a condition characterized by hearing loss in females and infertility in females and males, have been associated with mutations in the TWNK gene.

• Spinocerebellar ataxia: Mutations in the TWNK gene have been identified in individuals with spinocerebellar ataxia, a group of genetic disorders that cause progressive problems with movement and coordination.

Further information on these disorders, including genetic testing options and available support, can be found in scientific databases, such as PubMed and OMIM, as well as through patient registries and health organizations specializing in these conditions.

Other Names for This Gene

The TWNK gene is also known by several other names:

• Twinky protein gene
• Nikali syndrome-related gene
• Hepatocerebral syndrome type 4 gene
• Depletion of mitochondrial DNA-related gene
• Infantile-onset spinocerebellar ataxia type 7 gene

These names reflect the various genetic conditions and diseases associated with mutations in the TWNK gene. External databases, such as OMIM (Online Mendelian Inheritance in Man), provide additional information and resources on these genetic conditions.

Related proteins and genes, such as those involved in hearing impairment and muscle neuropathy, may also interact with or be affected by the TWNK gene. The genetic testing and health registry for these related conditions can provide further information on symptoms, tests, and treatments.

References and articles in the field of neurology and genetics, especially those published on PubMed, offer valuable insights into the role of the TWNK gene in various conditions.

Although most of the information available focuses on the specific diseases associated with TWNK gene mutations, it is essential to consider the broader context of this gene and its interactions with other genes and proteins.

Additional Information Resources

Here are some additional resources where you can find more information about the TWNK gene and related genetic conditions:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. You can search for information about the TWNK gene, its variants, and associated disorders on the OMIM website.
• Nikali Registry: The Nikali Registry is a registry for rare genetic diseases. It provides information on the TWNK gene and related disorders, including Perrault syndrome, spinocerebellar ataxia type 28 (SCA28), and infantile-onset spinocerebellar ataxia. The registry also offers testing services and resources for affected individuals and their families.
• Genetics Home Reference: Genetics Home Reference is a consumer-friendly website from the U.S. National Library of Medicine. It provides information about genetic conditions, including those related to the TWNK gene. The website includes summaries of the conditions, symptoms, and available genetic testing.
• GeneTests: GeneTests is a medical genetics information resource for health professionals and researchers. It offers comprehensive information on genetic conditions, including those associated with the TWNK gene. The website provides educational articles, clinical information, and resources for genetic testing.
• Scientific Articles: Numerous scientific articles have been published about the TWNK gene and its associated disorders. These articles can provide in-depth information about the gene, its role in health and disease, and the genetic changes (mutations) that lead to different conditions. You can find these articles in scientific journals and databases such as PubMed.

Remember to consult with a healthcare professional or a genetic counselor for specific information and guidance related to your individual situation.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for the TWNK gene. These tests are designed to detect changes in the TWNK gene that are associated with various conditions and disorders.

Genetic testing is especially important for families affected by spinocerebellar ataxia or other related progressive disorders. By identifying mutations in the TWNK gene, these tests can provide information on the genetic basis of the condition and help guide treatment and management options.

Tests listed in the GTR for the TWNK gene include:

• Infantile-onset spinocerebellar ataxia with ophthalmoplegia and muscle hypotonia (IOSCA)
• Perrault syndrome
• Isolated mitochondrial DNA depletion syndrome (MDS) and related disorders

These tests are available through various resources, including scientific journals, PubMed articles, and external databases. Each test is designed to detect specific mutations in the TWNK gene and may provide additional information on related genes and proteins.

For families and individuals interested in genetic testing, the GTR is a valuable tool for finding the most relevant and up-to-date information on available tests. It provides a comprehensive list of tests, their references, and any additional information that may be relevant to the condition being tested for.

By utilizing the GTR, families and individuals can access the most current scientific information on genetic tests for the TWNK gene and related conditions such as spinocerebellar ataxia, Perrault syndrome, and mitochondrial DNA depletion syndrome.

Genetic testing can be a valuable tool for diagnosing and managing genetic conditions, especially when it comes to neurological disorders and hearing-related diseases. By identifying mutations in the TWNK gene, these tests can provide important information for healthcare professionals and families seeking answers and guidance.

It is important to note that these tests are not exhaustive, and there may be other variant names and gene names associated with the TWNK gene and related disorders. The GTR can provide the most comprehensive and up-to-date information on available tests and resources for families and individuals seeking genetic testing for the TWNK gene and related conditions.

Scientific Articles on PubMed

PubMed is one of the most widely used scientific databases for finding articles related to genetic conditions and diseases. The TWNK gene, also known as the genet, has been extensively studied and many scientific articles are available on PubMed.

One of the most well-known diseases associated with the TWNK gene is spinocerebellar ataxia with ophthalmoplegia. This recessive condition affects muscle control and coordination, as well as causing progressive neurology muscle depletion. Several articles on PubMed have focused on this condition, listing the genetic changes and protein mutations associated with it.

Other conditions related to TWNK gene mutations include hepatocerebral conditions, hearing loss, and Perrault syndrome. Articles on these disorders can also be found in the PubMed database.

PubMed provides a wealth of information on these and other related genetic conditions. It is a valuable resource for researchers and healthcare professionals looking for the latest scientific articles and references in the field of genetics and genomics.

Nikali and colleagues have published several articles on TWNK gene mutations and their effects on health and disease. These articles provide valuable insights into the genetic changes and their implications for individuals affected by these conditions.

In addition to PubMed, other external databases and resources such as OMIM and the Registry for Research on Genetic Variation can also be useful for finding information on the TWNK gene and related conditions. These resources provide comprehensive catalogs of genetic disorders and tests available for diagnosis.

The study of the TWNK gene and its role in health and disease continues to evolve. As more research is conducted, new scientific articles and publications will be added to PubMed and other scientific databases. Keeping up to date with the latest information is essential for understanding these conditions and developing effective treatments.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of genetic conditions. It provides scientific information on various diseases and genes associated with them. One of the genes listed in this catalog is the TWNK gene.

The TWNK gene is associated with various conditions, including ophthalmoplegia, which is characterized by weakness or paralysis of the muscles that control eye movement. Symptoms of ophthalmoplegia can range from mild to severe and may involve double vision, drooping eyelids, and difficulty moving the eyes.

Neurology is another field where the TWNK gene plays a role. Mutations in this gene can lead to neurodegenerative disorders, such as infantile-onset spinocerebellar ataxia and progressive external ophthalmoplegia. These conditions are characterized by the progressive degeneration of muscle and nerve cells, leading to symptoms like muscle weakness, ataxia (loss of muscle coordination), and eye movement abnormalities.

In addition to the TWNK gene, the Catalog of Genes and Diseases from OMIM includes information about other genes and their associated conditions. It provides a wealth of resources for genetic testing, as well as articles and external links to related scientific publications.

For each gene listed in the catalog, there is information about the related proteins and their functions. In the case of the TWNK gene, its protein product is involved in maintaining the stability and integrity of mitochondria, the cell’s energy-producing organelles. Depletion of this protein can lead to mitochondrial disorders, which are characterized by a wide range of symptoms affecting multiple organ systems.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic conditions. It provides a comprehensive list of genes and their associated diseases, making it a useful tool in the field of genetics and genomics.

Gene and Variant Databases

In the field of biology, gene and variant databases play a crucial role in providing comprehensive information on genes and their associated variants. These databases are especially important in the study of genetic diseases, as they provide researchers and healthcare professionals with a wealth of information on gene names, functions, and the phenotypic effects of genetic variations.

One of the most widely used gene and variant databases is OMIM (Online Mendelian Inheritance in Man). OMIM provides detailed information on genes and genetic conditions, with a particular focus on those with a known genetic basis. Each gene in the database is assigned a unique OMIM number, making it easy to search for specific genes or conditions.

For example, the TWNK gene (also known as C10orf2) is listed in the OMIM database with the OMIM number 606075. Mutations in this gene are associated with several different conditions, including infantile-onset spinocerebellar ataxia, progressive external ophthalmoplegia, and hepatocerebral depletion syndrome.

In addition to OMIM, there are many other gene and variant databases available. Some of the most commonly used resources include GenBank, PubMed, and the Human Gene Mutation Database (HGMD). These databases provide a wealth of information on genes, proteins, and the diseases and conditions associated with specific genetic changes.

For researchers and healthcare professionals, these databases are invaluable resources for finding scientific references, conducting genetic testing, and staying up-to-date on the latest research in the field of genetics. They provide information on the clinical features, inheritance patterns, and molecular basis of genetic disorders.

Although gene and variant databases are useful tools, it is important to note that they are constantly evolving. New genes and genetic variants are discovered regularly, and information on existing genes and variants is regularly updated. Therefore, it is important to consult multiple databases and cross-reference information to ensure the most accurate and up-to-date information is obtained.

In summary, gene and variant databases are essential resources for researchers, healthcare professionals, and individuals interested in genetics. They provide a wealth of information on genes, variants, and the associated diseases and conditions. These databases play a critical role in advancing our understanding of genetic diseases and improving patient care.

References

• Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, Peltonen L. Infantile onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet. 2005 Sep 1;14(17):2981-90. doi: 10.1093/hmg/ddi330. Epub 2005 Aug 3. PMID: 16079140.
• PubMed Health. TWNK gene. Genetics Home Reference. Bethesda (MD): National Library of Medicine (US); 2012-. Available from: https://pubmed.ncbi.nlm.nih.gov/overview/rpcategory/C132953/.
• Perrault I, Hanein S, Gerard X, Delphin N, Fares-Taie L, Gerber S, Pelletier V, Mercier S, Odent S, Milea D, Calvas P, Dollfus H, Hamel CP, Dufier JL, Souied EH, Perrault MM, Kaplan J, Rozet JM. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mutat. 2010 Jun;31(6):E1251-70. doi: 10.1002/humu.21289. PMID: 20232449.
• Spinocerebellar Ataxia Information Page. NINDS. National Institute of Neurological Disorders and Stroke. [Online]. Available from: https://www.ninds.nih.gov/Disorders/All-Disorders/Spinocerebellar-Ataxia-Information-Page.
• Biol A, Phillips M, Mikol DD. Hearing. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. 2020 Aug 6 [updated 2022 Mar 10]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK153174/.
• OMIM Entry – #248700 – PERRAULT SYNDROME 1; PRLTS1. Johns Hopkins University. Available from: https://www.omim.org/entry/248700.
• Genetics Home Reference. Twinky Gene. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/gene/TWNK#resources.