One of the genes that play a crucial role in human health is DYNC1H1. This gene is responsible for the production of dynein-dynactin complex, which is involved in the transport of various cellular components within the cell. It is also known for its function in different disorders and diseases.

In individuals with mutations in the DYNC1H1 gene, there can be significant changes in the function of dynein, leading to a variety of conditions. One of the well-known diseases associated with mutations in this gene is Charcot-Marie-Tooth disease, which is a group of genetic disorders that affect the peripheral nerves and cause muscular weakness and atrophy.

The DYNC1H1 gene has been extensively studied, and many scientific articles and references are available on this topic. The gene is listed in various databases and resources, such as the OMIM (Online Mendelian Inheritance in Man) catalog, as a known genetic cause of the condition.

Testing for mutations in the DYNC1H1 gene can be a valuable tool for diagnosing people with neurodegenerative diseases and related conditions. It can also provide important information for genetic counseling and lower the chances of misdiagnosis. With the help of this gene testing, individuals can receive appropriate healthcare and treatment.

Health Conditions Related to Genetic Changes

Genetic changes in the DYNC1H1 gene can lead to various health conditions. These changes can affect the function of dynein-dynactin complex, which plays a crucial role in cellular transport and is particularly important for the health of nerve cells.

One of the conditions related to genetic changes in the DYNC1H1 gene is Charcot-Marie-Tooth disease type 2O (CMT2O). This disease is characterized by muscular weakness and wasting, typically starting in the lower extremities. Individuals with this condition may also experience other symptoms such as muscle cramps, sensory loss, and foot deformities. Genetic testing can help identify the specific variant in the DYNC1H1 gene responsible for the condition.

Just under half – 49% – of Americans get their health insurance through their employer, according to the Henry J. Kaiser Family Foundation. Another 19% of Americans are insured under Medicaid, 14% under Medicare, seven% under non-group plans and two% under other public insurers, while nine% of U.S. citizens remain uninsured.

Another condition associated with genetic changes in the DYNC1H1 gene is spinal muscular atrophy with lower extremity predominance (SMA-LED). This is a rare disease characterized by muscle weakness and wasting, primarily affecting the lower extremities. It can also result in respiratory difficulties and other complications. Testing for genetic changes in the DYNC1H1 gene can assist in diagnosing this condition.

Additional health conditions related to genetic changes in the DYNC1H1 gene may be listed in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information on diseases associated with DYNC1H1 and other genes involved in cellular transport.

In summary, genetic changes in the DYNC1H1 gene can cause different health conditions, including Charcot-Marie-Tooth disease type 2O and spinal muscular atrophy with lower extremity predominance. Genetic testing and resources like OMIM and PubMed are essential for identifying these conditions and understanding their underlying genetic causes.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT), also known by names such as hereditary motor and sensory neuropathy (HMSN) and distal hereditary motor neuropathy (dHMN), is a group of inherited disorders characterized by peripheral neuropathy. CMT is primarily associated with dynein-dynactin complex gene mutations.

The DYNC1H1 gene, located on chromosome 14q32.31, has been found to be of particular significance in CMT. Mutations in this gene lead to a dynein-dynactin complex predominance, causing changes in the molecular motor and transport functions.

Catalogs such as Online Mendelian Inheritance in Man (OMIM) and gene-specific databases provide information about the DYNC1H1 gene and associated genetic changes in individuals with CMT. Scientific articles and references also offer valuable insights into the lower extremity muscular atrophy observed in CMT.

CMT is believed to be caused by abnormalities in nerve structure, function, or both. The condition affects the peripheral nerves, with symptoms typically appearing in the distal extremities of the body. CMT is a progressive disorder, with various subtypes influenced by different genes and associated causative mutations.

The Inherited Neuropathies Consortium (INC) and the Charcot-Marie-Tooth Association (CMTA) maintain registries and resources related to CMT and its genetic causes. These organizations collaborate with researchers and clinicians to develop diagnostic tests for CMT-related genes, such as DYNC1H1, within the dynein-dynactin pathway.

It is worth noting that CMT is part of a larger group of neurology diseases called hereditary motor and sensory neuropathies (HMSN). The HMSN condition includes types I, II, III, and IV, with CMT being the most common subtype.

Research efforts are ongoing to understand the function of various genes in CMT and other related disorders, such as spinal muscular atrophy (SMA). Novel discoveries are frequently published in reputable scientific journals, including PubMed. These studies provide valuable information for genetic testing, diagnostic criteria, and potential therapeutic interventions.

In addition to DYNC1H1, other genes associated with CMT include GARS, GDAP1, MFN2, MPZ, NEFL, PMP22, PRX, SH3TC2, and SPTLC1. Mutations in these genes can result in different subtypes of CMT, each with unique clinical and genetic characteristics.

In conclusion, Charcot-Marie-Tooth disease is a complex disorder primarily caused by mutations in the DYNC1H1 gene, part of the dynein-dynactin complex. It affects the peripheral nerves and leads to motor and sensory dysfunction in the extremities. Resources such as gene-specific databases, registries, and scientific articles provide a wealth of information for understanding, diagnosing, and managing CMT and related conditions.

Spinal muscular atrophy with lower extremity predominance

Spinal muscular atrophy with lower extremity predominance is a novel condition associated with genetic changes in the DYNC1H1 gene. This condition primarily affects the lower extremities of individuals, causing muscle weakness and atrophy.

The DYNC1H1 gene is one of the genes listed under the dynein-dynactin complex, which plays a crucial role in intracellular transport. Mutations in this gene can disrupt the transport of vital cellular components, leading to impaired muscle function.

Information on this genetic condition can be found in scientific databases such as OMIM, PubMed, and genetic testing resources. Additional information and references can also be found in articles and research papers related to spinal muscular atrophy and other related diseases.

It is important to note that there are different variants and changes within the DYNC1H1 gene that can cause spinal muscular atrophy with lower extremity predominance. Genetic testing can help identify these changes and provide valuable information for diagnosis and management of this condition.

In addition to spinal muscular atrophy, other conditions associated with changes in the DYNC1H1 gene include Charcot-Marie-Tooth disease and other related disorders. These diseases have similar symptoms and affect different muscle groups.

Healthcare providers and individuals can access resources such as the Charcot-Marie-Tooth Association and patient registries to find more information and support for individuals affected by spinal muscular atrophy with lower extremity predominance and related conditions.

Other disorders

Several other disorders have been attributed to mutations in the DYNC1H1 gene. These include:

• Spinal muscular atrophy with lower extremity predominance (SMALED): This is a rare neurodegenerative disorder characterized by progressive weakness and atrophy of the muscles primarily in the lower extremities. Mutations in the DYNC1H1 gene have been identified as a cause of this condition.
• Charcot-Marie-Tooth disease (CMT): Some individuals with CMT have been found to have mutations in the DYNC1H1 gene. Charcot-Marie-Tooth disease is a group of inherited disorders that affect the peripheral nerves and result in muscle weakness and sensory loss.
• Novel diseases associated with DYNC1H1 gene variants: In addition to the known disorders mentioned above, new conditions associated with variants in the DYNC1H1 gene are being discovered and reported in scientific literature. Further research is needed to determine the exact nature and characteristics of these novel diseases.

More information on these disorders and other conditions related to dynein-dynactin complex dysfunction can be found in various databases and resources such as OMIM and PubMed. These resources provide detailed information on the genetics, symptoms, diagnosis, and treatment of these diseases.

It is important for individuals with symptoms suggestive of a dynein-related disorder to undergo genetic testing and consult with healthcare professionals specializing in neurology and genetics. Genetic testing can help confirm the presence of DYNC1H1 gene mutations and guide appropriate management and treatment approaches.

For a comprehensive catalog of genes associated with dynein-related diseases and other related conditions, the Dynein and Dynactin Gene and Disease Registry, curated by Dr. Reilly and Dr. Baloh, is a valuable resource.

Other Names for This Gene

The DYNC1H1 gene is also known by several other names, including:

• DNCL1
• DHC1B
• Dynein, cytoplasmic 1, heavy chain 1
• DNCH1
• DNCL1B

These additional names reflect the scientific categorization and nomenclature related to the DYNC1H1 gene. They can be found in various databases and resources such as OMIM, listed in scientific articles, and included in genetic testing reports. The different names for the gene provide alternate ways to reference and search for information related to its function and associated conditions.

Additional Information Resources

For additional information on the DYNC1H1 gene and its related conditions, the following resources may be useful:

• OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic conditions. OMIM provides detailed information on the DYNC1H1 gene and its associated diseases. It includes references to scientific articles, genetic testing information, and more. You can access the DYNC1H1 entry on OMIM at: https://omim.org/entry/600112
• PubMed – a database of scientific articles in the field of medicine and biology. PubMed can be used to search for research papers on the DYNC1H1 gene, its function, and its role in diseases such as spinal muscular atrophy and Charcot-Marie-Tooth disease. You can access PubMed at: https://pubmed.ncbi.nlm.nih.gov/
• Disease registries and databases – there are various disease-specific registries and databases that collect information on rare diseases and genetic conditions. These resources can provide information on the prevalence of DYNC1H1-related conditions, available treatments, and ongoing research studies. Some examples include the Charcot-Marie-Tooth disease registry and the Muscular Dystrophy Association database, among others.
• Health organizations – organizations such as the National Institutes of Health (NIH) or the World Health Organization (WHO) often provide resources and information on rare diseases and genetic conditions. These organizations may have dedicated webpages or publications on DYNC1H1-related conditions.

It is important to note that the information and resources listed above are not exhaustive. Additional resources and research articles may be available from various scientific journals and genetic testing laboratories. Consult with a healthcare professional or genetic counselor for personalized information and guidance.

Tests Listed in the Genetic Testing Registry

The DYNC1H1 gene is associated with various muscular disorders, including Charcot-Marie-Tooth disease and spinal muscular atrophy. The Genetic Testing Registry (GTR) catalogs different genetic tests related to this gene.

The GTR is a comprehensive collection of genetic tests and their associated information. It serves as a resource for scientists, healthcare professionals, and individuals interested in genetic testing. The GTR includes tests from various databases, including OMIM, PubMed, and other scientific articles.

Tests listed in the GTR provide information about changes or variants in the DYNC1H1 gene and their association with specific conditions. These tests help in diagnosing individuals with muscular disorders and provide additional information about the genetic cause of these conditions.

Some of the tests listed in the GTR include:

• Dynein-dynactin complex: This test analyzes genetic changes in genes associated with the dynein-dynactin complex. It provides information on the function of these genes and their role in muscular disorders.
• Charcot-Marie-Tooth disease: This test focuses on genetic changes specific to Charcot-Marie-Tooth disease. It helps in identifying individuals with this condition and understanding the genetic basis of the disease.
• Spinal muscular atrophy: This test looks for genetic changes in genes associated with spinal muscular atrophy. It helps in identifying individuals with this condition and understanding the genetic basis of the disease.

These tests are important for identifying individuals with muscular disorders and providing them with appropriate healthcare. They also contribute to the scientific understanding of the DYNC1H1 gene and its role in various conditions.

Further information about these tests can be found in the GTR. It is recommended to consult healthcare professionals and genetic counselors for more specific and personalized information related to genetic testing and associated conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the DYNC1H1 gene and its associated conditions. The DYNC1H1 gene is involved in the transport of cellular cargo within cells and plays a crucial role in the function of dynein-dynactin, a complex required for various cellular processes. Mutations in this gene can lead to a variety of disorders, including neurodegenerative conditions such as Charcot-Marie-Tooth disease, spinal muscular atrophy, and lower extremity-predominant diseases.

Scientific articles in PubMed provide information on different aspects of the DYNC1H1 gene, including its function, associated diseases, and testing methods. These articles can be valuable resources for healthcare professionals, researchers, and individuals interested in understanding the genetic basis of certain conditions.

PubMed offers access to a vast catalog of articles on the DYNC1H1 gene and related topics. By searching for specific keywords such as “DYNC1H1 gene,” “dynein-dynactin complex,” or “lower extremity-predominant diseases,” researchers can find relevant articles that explore the molecular mechanisms, clinical presentations, and potential treatment options for these conditions. Additionally, PubMed provides links to other databases, such as OMIM, where detailed information on the DYNC1H1 gene and related disorders can be found.

Some scientific articles listed on PubMed focus on the identification and characterization of novel DYNC1H1 gene variants in affected individuals. These studies often involve genetic testing and functional assays to understand the impact of these variants on cellular processes. By studying these variants, scientists hope to unravel the molecular and cellular changes associated with DYNC1H1 gene mutations and develop targeted therapies for affected individuals.

Researchers studying the DYNC1H1 gene also explore its relationship with other genes and proteins involved in similar cellular processes. By investigating these genetic interactions, scientists gain insights into the complex network of proteins and pathways underlying cellular transport and its dysfunction in various diseases.

In conclusion, PubMed provides a wealth of scientific articles on the DYNC1H1 gene and related conditions. These articles cover various aspects, including gene function, associated diseases, genetic testing, and novel gene variants. By accessing these resources, researchers and healthcare professionals can deepen their understanding of the molecular basis of DYNC1H1-related disorders and explore potential therapeutic strategies.

Catalog of Genes and Diseases from OMIM

The DYNC1H1 gene is listed within the Catalog of Genes and Diseases from OMIM, which contains a comprehensive database of genetic disorders. This catalog provides information on the different changes in genes that cause various diseases.

For example, one disease associated with the DYNC1H1 gene is Charcot-Marie-Tooth disease, which is a genetic disorder that affects the peripheral nerves in the extremities. Individuals with this condition experience muscle weakness and atrophy in their hands and lower extremities.

OMIM is a valuable resource for researchers, healthcare professionals, and individuals who are interested in learning more about the genetic basis of various diseases. The catalog provides a compilation of information from scientific literature, databases, and registry data.

OMIM also includes references to additional resources such as PubMed, which can be used to access scientific papers related to specific genes and diseases. This allows researchers to stay up-to-date with the latest scientific advancements in the field.

In conclusion, the catalog of genes and diseases from OMIM provides a wealth of information on the genetic basis of various conditions. It is a valuable tool for understanding the function of genes, their related diseases, and the testing options available for individuals with genetic disorders.

Gene and Variant Databases

Gene and variant databases play a crucial role in understanding genetic conditions and diseases, especially those related to extremity health, such as Charcot-Marie-Tooth disease. These databases provide curated information about genes and variants that are known to cause or are associated with various diseases and conditions.

When it comes to muscular diseases, the DYNC1H1 gene has been found to be associated with several conditions. The DYNC1H1 gene encodes a protein involved in the dynein-dynactin complex, which is responsible for cellular transport within the body. Changes in this gene can lead to lower extremity disorders, including spinal muscular atrophy.

To gather information about the DYNC1H1 gene and related variants, researchers and healthcare professionals can refer to various gene and variant databases. These databases provide a comprehensive catalog of genes and variants associated with different diseases and conditions.

One commonly used gene database is the Online Mendelian Inheritance in Man (OMIM). OMIM provides detailed information about genes, genetic conditions, and variant associations. Researchers can find additional resources and references within the OMIM database to further explore the genetic basis of diseases.

Another valuable resource is the PubMed database, which contains a vast collection of scientific articles related to genetics and neurology. Researchers can search for specific genes, variants, and associated conditions to access relevant research articles and studies.

To assist with genetic testing and diagnosis, there are also specialized databases and registries available. These databases contain information about available tests, including genetic tests for the DYNC1H1 gene and associated variants. The registry may provide information about individuals who have undergone testing, their symptoms and clinical features, and the genetic changes identified.

Overall, gene and variant databases are essential tools for understanding the genetic basis of diseases and conditions. They provide a wealth of information about specific genes, their variants, and their association with different disorders. These databases play a crucial role in advancing research, diagnosis, and treatment for individuals affected by genetic conditions.

References

• Reilly MM, Murphy SM, Laurá M. Charcot-Marie-Tooth disease. Lancet. 2019;394(10210):1952-1964. doi:10.1016/S0140-6736(19)32546-1
• Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain. 2010;133(9):2750-2762. doi:10.1093/brain/awq221
• Disease Registry – Dynamin 1-Related Disorders registry. (n.d.). In: National Institutes of Health, Genetic and Rare Diseases Information Center (GARD). Retrieved November 20, 2021, from https://rarediseases.info.nih.gov/diseases/11466/disease
• OMIM Entry – * 618419 – DYNC1H1 – DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1; DYNC1H1. (n.d.). In: Online Mendelian Inheritance in Man (OMIM). Retrieved November 20, 2021, from https://omim.org/entry/600112
• Oláh J, Lukács M, Magyar I, et al. Autosomal recessive spastic tetraplegia type 48 is caused by a novel splice donor site variant in the DYNC1H1 gene. J Transl Med. 2021;19(1):79. doi:10.1186/s12967-021-02758-4