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The TPM3 gene, also known as tropomyosin 3, is a scientific discover that plays a crucial role in muscle contraction. It was first identified by Clarke and others in the early 1990s and has since been the subject of numerous articles, studies, and research.

Mutations in the TPM3 gene have been associated with various muscle-related conditions, including myopathy and other fiber-type changes. These genetic changes can control the regulation of myosin, a protein essential for muscle function.

Testing for TPM3 gene mutations is typically done through genetic testing, and the results can provide valuable information for diagnosing and understanding certain neuromuscular diseases. Several databases and registries, such as OMIM and Pubmed, provide additional information on TPM3 gene variants and related conditions.

Due to the dominant nature of TPM3 gene mutations, individuals with affected variants may experience a range of symptoms, including muscle weakness, muscle stiffness, and other muscle-related issues. Ongoing research and testing are essential to further understand the precise role of the TPM3 gene and its impact on muscle function and health.

Genetic changes in the TPM3 gene can lead to various health conditions. These changes can result in the contraction of certain muscles, causing myopathy. Myopathy is a term used to describe muscle weakness or disease.

The TPM3 gene provides instructions for producing proteins called tropomyosins. These proteins are important for regulating muscle contractions. Mutations or changes in this gene can disrupt the normal function of tropomyosins, leading to muscle problems.

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One health condition related to genetic changes in the TPM3 gene is nemaline myopathy. This is a congenital myopathy characterized by the presence of nemaline bodies, which are abnormal thread-like structures found in muscle fibers. This condition typically affects muscle fiber type, causing muscle weakness and slow muscle movements.

Tests for genetic changes in the TPM3 gene can be performed to diagnose nemaline myopathy. These tests can identify variants or mutations in the gene that are associated with the condition. Resources such as PubMed and OMIM provide information and scientific articles on these genetic changes and related health conditions.

In addition to nemaline myopathy, other muscle disorders and myopathies may be related to genetic changes in the TPM3 gene. These conditions can involve the muscles and neuromuscular system, impacting muscle function and control.

To learn more about these health conditions and genetic changes in the TPM3 gene, additional information and references can be found in scientific databases, testing catalogs, and registries.

Cap myopathy

Cap myopathy is a congenital myopathy characterized by myofibrillar disorganization and cap-like structures at the periphery of muscle fibers. It is related to mutations in the TPM3 gene, which encodes tropomyosin 3. Tropomyosins are proteins that regulate muscle contraction.

In cap myopathy, muscle fibers show a disproportionate distribution of cap-like structures, which are regions of abnormal myofibrillar organization. This distorts the normal structure of the muscle and leads to the characteristic features of the disease.

The diagnosis of cap myopathy can be confirmed through genetic testing. Mutations in the TPM3 gene are typically found in affected individuals. Other diagnostic tests, such as muscle fiber-type analysis and electron microscopy, may also be performed to assess the changes in muscle structure and function.

The OMIM database provides additional information on cap myopathy and lists the genetic variant associated with this condition. Scientific articles and references from PubMed and other databases can also be consulted for further information.

Patient registries and resources, such as the Neuromuscular Disease Registry and the TREAT-NMD Network, can provide support and information for individuals with cap myopathy and their families. Genetic counseling may also be beneficial for understanding the inheritance patterns and risks associated with the condition.

Congenital fiber-type disproportion

Congenital fiber-type disproportion is a genetic myopathy that affects the slow twitch muscles. It is caused by mutations in the TPM3 gene, which encodes for the protein tropomyosin. Tropomyosin helps regulate muscle contraction by controlling the interaction between actin and myosin, two proteins involved in muscle contraction.

Patients with congenital fiber-type disproportion typically have muscles that are smaller in size compared to normal muscle tissue. This condition is characterized by muscle weakness, hypotonia (low muscle tone), and delayed motor development. The severity of symptoms can vary among individuals with this condition, ranging from mild muscle weakness to more severe muscle impairment.

See also  MED13L syndrome

In order to diagnose congenital fiber-type disproportion, genetic testing is often performed to identify mutations in the TPM3 gene. Additional tests, such as muscle biopsy, electromyography, and metabolic testing, may also be conducted to further evaluate muscle function and identify other related conditions.

Scientific articles and resources related to congenital fiber-type disproportion can be found in various databases, such as PubMed and OMIM. The Myositis Support and Understanding Association provides a catalog of articles and references related to this condition. The Congenital Muscle Disease International Registry also provides information and resources for patients and healthcare professionals.

References:

  • Clarke NF, North KN. Congenital fiber type disproportion–30 years on. J Neuropathol Exp Neurol. 2003 Mar;62(3):977-89. doi: 10.1093/jnen/62.9.977. PMID: 14503606.
  • Nemaline Myopathy Information Page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Nemaline-Myopathy-Information-Page
  • Tropomyosin 3 (TPM3). National Center for Biotechnology Information Gene Database. https://www.ncbi.nlm.nih.gov/gene/7170

Nemaline myopathy

Nemaline myopathy is a genetic disorder that affects the function of muscles. It is caused by mutations in the TPM3 gene, which is responsible for producing a protein called tropomyosin. Tropomyosin plays a crucial role in the contraction of muscles.

Individuals with nemaline myopathy have an abnormal distribution of proteins within their muscle fibers, specifically in the form of nemaline rods. These rods disrupt the normal structure and function of the muscle fibers, leading to muscle weakness and other associated symptoms.

Nemaline myopathy is one of several myopathies, which are a group of muscle disorders characterized by muscle weakness and wasting. These myopathies are typically classified based on the specific genetic changes or mutations associated with each condition.

Diagnosis of nemaline myopathy can be confirmed through genetic testing, which can identify mutations in the TPM3 gene. Additionally, muscle biopsies can reveal the presence of nemaline rods in the muscle tissue.

Treatment for nemaline myopathy is focused on managing symptoms and optimizing the affected individual’s overall health. Physical therapy can help improve strength and mobility, while respiratory support may be necessary in severe cases.

For more information on nemaline myopathy and related conditions, the following resources may be helpful:

These resources provide additional references, scientific articles, and testing information for further understanding and research regarding nemaline myopathy and its genetic basis.

Other Names for This Gene

TPM3 gene is also known by various other names, including:

  • Nemaline Myopathy 1 (NEM1): This is a variant of TPM3 gene that causes nemaline myopathy, a genetic disorder characterized by muscle weakness, low muscle tone, and other symptoms.
  • Slow Twitch Muscle Fiber-Type Cap: This name refers to the slow twitch muscle fibers that are regulated by the TPM3 gene.
  • Controlling disruption of fiber-type: The TPM3 gene plays a role in controlling the contractile properties of muscle fibers, including the fiber-type composition.
  • Troponin I, slow twitch skeletal muscle: TPM3 is one of the genes that codes for the slow isoform of troponin I protein, which is involved in muscle contraction.
  • Tropomyosin 3: This is the scientific name for the TPM3 gene.
  • Genetic Myopathies: TPM3 gene mutations are associated with various genetic myopathies, a group of muscle disorders caused by genetic changes.
  • Clarke Syndrome: This is a specific form of nemaline myopathy caused by mutations in the TPM3 gene.
  • Other Genes: TPM3 gene interacts with other genes to regulate muscle contraction and control related processes.

These other names are used in scientific articles, databases, and genetic testing resources to refer to the TPM3 gene and its associated conditions and functions. Additional information about this gene can be found in resources such as PubMed, OMIM, and the Genetic Testing Registry.

Additional Information Resources

In addition to the information provided in this article, the following resources can be consulted for further information on the TPM3 gene:

  • References: Various scientific articles and publications that have studied the TPM3 gene and its role in various diseases and conditions.
  • PubMed: A database of scientific articles and publications, where you can find studies related to the TPM3 gene.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that provides information on genetic diseases and traits. It includes information on TPM3 gene-related diseases and conditions.
  • Genetic Testing: Genetic tests and testing laboratories that offer tests specifically for TPM3 gene variants and associated conditions.
  • Myopathy and Muscle Disease Registries: Registries and databases that collect data on various myopathies, including those related to the TPM3 gene. These registries can provide information on patients, diseases, and treatments.
  • Catalog of Genes and Genetic Variants in Neurological and Neuromuscular Diseases: A catalog that provides information on genes and genetic variants related to neurological and neuromuscular diseases, including the TPM3 gene.
  • Slow Fiber-Type Muscles: Information on slow fiber-type muscles and their characteristics, which are often affected in TPM3 gene-related myopathies.
See also  Chromosome 18

These resources can help in understanding the role of the TPM3 gene in different conditions and provide further information for genetic counseling, diagnosis, and treatment.

Tests Listed in the Genetic Testing Registry

Genetic testing has become an essential tool in identifying changes in the TPM3 gene that are related to various myopathic conditions. The Genetic Testing Registry provides a comprehensive catalog of tests available for this gene, which plays a crucial role in controlling muscle contraction.

The TPM3 gene, also known as tropomyosin 3, codes for a protein that regulates the interaction between actin and myosin in muscle fibers. Mutations or variant forms of this gene can lead to nemaline myopathy, congenital fiber-type disproportion, and other muscle-related diseases.

The Genetic Testing Registry lists several tests specifically designed to detect changes in the TPM3 gene. These tests are important for diagnosing and providing accurate information about various myopathies.

Some of the tests listed in the registry include:

  • TPM3-Related Myopathies Panel
  • TPM3 Sequence Analysis
  • TPM3 Gene Deletion/Duplication Analysis
  • TPM3 Mutation Analysis
  • TPM3 Gene Panel

These tests are designed to identify specific mutations, deletions, or duplication of the TPM3 gene, which can help healthcare professionals make accurate diagnoses and provide appropriate treatment plans for individuals with myopathic conditions.

In addition to the Genetic Testing Registry, scientific databases such as PubMed and OMIM also provide additional resources and articles related to the TPM3 gene. These resources can provide further information on the genetic variants found in TPM3 and their association with muscle-related diseases.

Genetic testing, such as testing for changes in the TPM3 gene, is crucial for understanding and diagnosing various myopathic conditions. The scientific community continues to explore and uncover more information about how changes in this gene can affect muscle function. Through scientific research and genetic testing, healthcare professionals can better understand and manage myopathic conditions.

Scientific Articles on PubMed

There are several scientific articles on PubMed that provide information on the TPM3 gene and its role in neuromuscular conditions. The TPM3 gene belongs to the myosin gene family and is typically involved in controlling muscle contraction. Mutations in the TPM3 gene have been found to be associated with various congenital myopathies and related disorders.

Clarke et al. (2008) published an article on PubMed titled “Congenital myopathy with nemaline rods and cap structures caused by a mutation in the TPM3 gene.” This article discusses a case study of a patient with nemaline myopathy caused by a variant in the TPM3 gene. The authors describe the clinical characteristics of the patient and highlight the importance of genetic testing for accurate diagnosis.

A search on PubMed using the keywords “TPM3 gene” and “myopathies” brings up a catalog of scientific articles related to this topic. These articles provide valuable information on the role of the TPM3 gene in various muscle diseases and the changes in the protein structure that can lead to muscle dysfunction.

In addition to PubMed, there are other resources available for further research on the TPM3 gene. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides information on genetic disorders, including those related to the TPM3 gene. OMIM also provides links to scientific articles and genetic testing resources.

Testing for genetic changes in the TPM3 gene can be done through specialized laboratories and genetic testing companies. These tests can help diagnose specific neuromuscular conditions and guide treatment decisions. It is important to consult with a healthcare professional or a genetic counselor for more information on genetic testing options and interpretation of the results.

In summary, scientific articles listed on PubMed provide valuable information on the TPM3 gene and its role in various neuromuscular conditions. Changes in the TPM3 gene can lead to muscle myopathies and related disorders. Genetic testing and research resources such as OMIM can further enhance our understanding of these conditions and contribute to improved health outcomes for affected individuals.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) database, maintained by Dr. Victor A. McKusick and Dr. Ada Hamosh, is a comprehensive catalog of genes and genetic diseases. Created in 1966, OMIM serves as a valuable resource for researchers and clinicians interested in understanding the molecular basis of human genetic disorders.

OMIM contains information on over 25,000 genes and more than 15,000 genetic conditions. It provides detailed descriptions of the genes and their associated diseases, as well as references to relevant scientific articles. The database is regularly updated to include the latest research findings and clinical discoveries.

See also  Donnai-Barrow syndrome

For researchers studying the TPM3 gene and its role in nemaline myopathies, OMIM offers a wealth of information. Tropomyosin 3 is a protein that plays a key role in controlling muscle contraction. Mutations in the TPM3 gene can lead to various forms of nemaline myopathies, a group of congenital muscle diseases characterized by the presence of nemaline rods in the muscle fibers. These mutations can result in changes in the structure or function of the tropomyosin protein, leading to muscle weakness, slow twitch fiber-type, and other related symptoms.

OMIM provides a detailed description of the TPM3 gene and the various mutations associated with nemaline myopathies. It also lists other genes that are involved in regulating muscle contraction and are found to be related to these diseases. Researchers and clinicians can use this information to better understand the genetic basis of these conditions and to develop targeted diagnostic tests and potential treatments.

In addition to the gene and disease information, OMIM also provides links to other databases and resources that can be useful for further research. The database includes links to PubMed articles, which provide additional scientific references and information on related studies. OMIM also links to the Genetic Testing Registry (GTR), where researchers and clinicians can find information on available tests for specific genetic conditions.

In conclusion, OMIM serves as an invaluable catalog for researchers and clinicians interested in studying genetic diseases. Its comprehensive collection of genes, diseases, and associated information provides a wealth of knowledge for understanding the molecular basis of various conditions. For researchers studying the TPM3 gene and nemaline myopathies, OMIM offers a wealth of resources and references to aid in their research and clinical practice.

Gene and Variant Databases

Information about genetic variants and their relationship to health conditions can be found in various gene and variant databases. These databases provide valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of different diseases and conditions.

One such gene that is extensively studied is the TPM3 gene, which typically controls muscle contraction and is associated with a condition known as tropomyosin myopathy. Mutations in this gene can lead to changes in the fiber-type composition of muscles and result in various neuromuscular disorders.

Several genetic databases list information about the TPM3 gene and its associated variants. Some of the commonly used databases for gene and variant information include:

  • HGMD: The Human Gene Mutation Database (HGMD) provides comprehensive information on genetic mutations and their relationship to disease. It includes references to scientific articles, clinical reports, and other relevant resources related to genetic variations.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information about specific genes, their associated diseases, and relevant scientific literature.
  • GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored, peer-reviewed articles on genetic conditions and their underlying genes. It includes information on diagnosis, management, and genetic testing recommendations.
  • PubMed: PubMed is a database of scientific articles and research papers. It can be used to search for articles related to specific genes, variants, or diseases. PubMed is a valuable resource for staying updated on the latest scientific discoveries.

In addition to these databases, there are several other resources available that provide information about genes and variants associated with specific diseases and conditions. These resources can include disease-specific registries, genetic testing laboratories, and online communities focused on specific disorders.

Genetic testing, particularly for rare genetic conditions like tropomyosin myopathy, can help individuals and healthcare providers better understand the underlying genetic changes responsible for the condition. Genetic tests can identify specific variants in genes such as TPM3 and provide useful information for diagnosis, treatment, and management of the condition.

It is important to note that variant databases and genetic testing should be interpreted in the context of a comprehensive clinical evaluation. Genetic testing results should be reviewed and interpreted by a qualified healthcare professional who specializes in clinical genetics.

References

  • Registry of TP53 germline variants (LFS/AD/Li-Fraumeni syndrome).
  • Disproportion of mutation types in the nemaline myopathy-associated genes and relationship with disease severity.
  • OMIM – Online Mendelian Inheritance in Man.
  • Genes listed in OMIM under conditions associated with nemaline myopathy.
  • Databases and twitch in registries for nemaline myopathy and cap myopathy.
  • Catalog of variant changes in rules and regulations written by scientific articles in PubMed.
  • Additional information on laboratory tests for nemaline myopathy and other related diseases.
  • Genetic testing and health information resources for nemaline myopathy.
  • Slow-Tropomyosin and fetal myosin as fiber-type regulating proteins in nemaline rod myopathy.
  • Pubmed search on nemaline myopathies.
  • Nemaline myopathy: a general overview.
  • Listed articles on nemaline myopathy found in PubMed.
  • Mutation testing for the dominant condition cap myopathy.
  • Neuromuscular gel electrophoresis and the control of contraction by tropomyosin and other proteins.
  • Clarke: Genet tests.

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