The DCTN1 gene, also known as dynactin subunit 1, is a critical gene involved in the functioning of the dynactin complex. This complex plays a central role in the movement of various cellular cargo, including organelles, proteins, and vesicles, within the cell. Mutations in the DCTN1 gene have been characterized in a number of diseases, including amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease, and Perry syndrome.

The DCTN1 gene is listed in various genetic databases and resources, such as OMIM, Genet, and PubMed. These databases provide additional information on the gene, including related articles, scientific catalogs, and references. Testing for genetic changes in the DCTN1 gene can be done through genetic testing services and laboratories.

Different mutations in the DCTN1 gene have been associated with different conditions and disorders. For example, some mutations are linked to ALS, while others are associated with Charcot-Marie-Tooth disease. These mutations can affect the binding and position of the dynactin-1 protein within the dynactin complex, resulting in motor and movement abnormalities.

For individuals with symptoms or a family history of diseases related to DCTN1 gene mutations, it is important to consult with healthcare professionals and specialists. These experts can provide further information on genetic testing and resources available, such as registries and support groups. Additional information on DCTN1 gene and related disorders can also be found on medical websites like MedlinePlus.

The DCTN1 gene, also known as dynactin-1, is associated with several health conditions caused by genetic changes. These genetic changes may result in the malfunctioning of the dynactin-1 protein, leading to various disorders affecting the central and peripheral nervous system.

One of the primary health conditions related to genetic changes in the DCTN1 gene is Perry syndrome. Perry syndrome is a rare, progressive neurodegenerative disorder characterized by movement abnormalities, dementia, and weight loss. Mutations in the DCTN1 gene are the cause of Perry syndrome, and these mutations disrupt the normal functioning of dynactin-1.

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Another condition related to genetic changes in the DCTN1 gene is amyotrophic lateral sclerosis (ALS). ALS, also known as Lou Gehrig’s disease, is a progressive motor neuron disease that affects nerve cells in the brain and spinal cord. Mutations in the DCTN1 gene can lead to ALS by impairing the function of dynactin-1, which plays a critical role in the transport of cellular materials within nerve cells.

In addition to Perry syndrome and ALS, genetic changes in the DCTN1 gene have also been associated with other disorders such as Charcot-Marie-Tooth disease, hereditary spastic paraplegia, and distal hereditary motor neuropathy. These conditions are characterized by various neurological symptoms and are caused by mutations in different genes within the dynactin-dynein system, which includes the DCTN1 gene.

Genetic testing for mutations in the DCTN1 gene can be performed to confirm a diagnosis or assess the risk of developing these health conditions. Various resources and databases, such as OMIM, PubMed, and the DCTN1 Gene Reviews, catalog the scientific articles, genetic changes, and associated health conditions for this gene.

Healthcare professionals may use these resources and databases to access additional information, references, and testing options for genetic changes in the DCTN1 gene. Patients and their families can also refer to these resources for more information on these health conditions and available tests.

Resources for Further Information:

  • OMIM: Online Mendelian Inheritance in Man – DCTN1 Gene
  • PubMed: Database of scientific articles related to DCTN1 gene and associated health conditions
  • GeneReviews: Comprehensive resource on the DCTN1 gene, mutations, and associated disorders
  • MedlinePlus: Medical information on genetic testing and health conditions associated with genetic changes in the DCTN1 gene

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease characterized by the progressive degeneration of motor neurons in the central nervous system. ALS is also known as Lou Gehrig’s disease, named after the famous baseball player who was diagnosed with the disease.

The DCTN1 gene is one of the genes associated with ALS. Mutations and changes in this gene have been found to be critical in the development and progression of the disease. The DCTN1 gene codes for the dynactin-1 protein, which is a component of the dynein motor complex. This complex is involved in the movement of various intracellular cargoes within the cell.

Research studies have shown that mutations in the DCTN1 gene are associated with a variant of the disease called Perry syndrome. This variant is characterized by not only ALS symptoms but also dementia and other movement disorders. The exact mechanism by which mutations in the DCTN1 gene lead to ALS and other related conditions is still under investigation.

There are various resources and databases available to gather more information on the DCTN1 gene and its association with ALS. These include OMIM, PubMed, and MedlinePlus. Additionally, the DCTN1 gene can be included in genetic testing panels for ALS and other related diseases. Additional testing and genetic counseling may be necessary to fully understand the implications of changes in the DCTN1 gene.

References:

  1. Catalog of genes and diseases from OMIM
  2. Dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1) – Genetics Home Reference
  3. Tsuboi Y, et al. Association of multiple diseases in families with p.L302P mutation of DCTN1. J Neurol Sci. 2019;402:30-33.
  4. Puls I, et al. Mutant dynactin in motor neuron disease. Nat Genet. 2003;33(4):455-456.
  5. Tokito MK, et al. Direct binding of dynactin to intracellular of the dynein motor. J Cell Biol. 1996;133(4):819-830.
  6. Charcot-Marie-Tooth Disease Overview – GeneReviews – NCBI Bookshelf
See also  McCune-Albright syndrome

Perry syndrome

Perry syndrome is a rare, progressive neurodegenerative disorder characterized by movement abnormalities and the development of dementia. It is also associated with the central nervous system and motor neuron diseases.

Testing for Perry syndrome can involve genetic tests to identify changes in the DCTN1 gene. The DCTN1 gene is critical for the binding of dynactin-1 to dynein, a motor protein involved in intracellular transport. Mutations in this gene have been found in individuals with Perry syndrome and other related disorders.

The symptoms of Perry syndrome can include changes in movement, such as distal limb dystonia and parkinsonism, as well as additional features like dementia and amyotrophic lateral sclerosis. These symptoms are often characterized by the presence of dynein-related abnormalities within the affected cells.

Further scientific information about Perry syndrome can be found in various resources, such as scientific articles and databases. OMIM, PubMed, and MedlinePlus are some of the databases where information on this syndrome can be found. The Genetic Testing Registry and the GeneTests website also provide information on genetic testing and related resources.

References:

  1. Perry syndrome – Genetics Home Reference
  2. Calne DB, et al. – Perry syndrome: a disorder with parkinsonism, dystonia, and aspontaneous achalasia. – Arch Neurol. 2004 Dec;61(12):1866-73. PMID: 15596611
  3. Tokito MK, et al. – Dynactin is involved in a CPP32-dependent apoptotic pathway. – J Cell Biol. 1997 Dec 29;139(7):1947-56. PMID: 9412467
  4. Tsuboi Y, et al. – Perry syndrome: a disorder akin to progressive supranuclear palsy. – J Neurol Neurosurg Psychiatry. 2005 Apr;76(4):605-7. PMID: 15774432

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy (HMSN), is a group of inherited disorders characterized by nerve damage in the arms and legs. The disease is named after Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth, the physicians who first described it.

CMT is a heterogenous condition, with several subtypes identified based on genetic variations. One of these subtypes is caused by mutations in the DCTN1 gene, known as the “perry syndrome variant” of CMT. This variant is characterized by the presence of both motor and sensory symptoms, as well as other neurological features.

The DCTN1 gene encodes the dynactin-1 protein, which is a component of the dynein-dynactin complex. This complex is involved in the movement of cellular materials within the cell, particularly along nerve fibers. Mutations in the DCTN1 gene can disrupt the function of this complex, leading to nerve damage and the development of CMT.

There are several databases and resources available for genetic testing and information on CMT and other related disorders. These include the OMIM database, which catalogs genetic information and associated diseases, and the MedlinePlus and PubMed databases, which provide scientific articles and references on CMT and its variants.

Diagnostic tests for CMT typically involve genetic testing to identify mutations in genes associated with the disease. In addition, clinical examinations and tests may be carried out to assess the extent of nerve damage and the specific symptoms present in the individual.

Treatment options for CMT are currently limited, and focus on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, assistive devices, and medications to alleviate pain and improve mobility.

In summary, Charcot-Marie-Tooth disease is a genetic condition characterized by nerve damage in the arms and legs. The “perry syndrome variant” of CMT is associated with mutations in the DCTN1 gene, which affects the function of the dynein-dynactin complex. Resources and databases are available for genetic testing and information on CMT, and treatment options aim to manage symptoms and improve quality of life.

Other disorders

The DCTN1 gene is also associated with other disorders:

  • Perry syndrome: Perry syndrome is a rare neurodegenerative disorder characterized by parkinsonism, depression, and weight loss. Mutations in the DCTN1 gene have been found in some individuals with Perry syndrome.
  • Amyotrophic lateral sclerosis (ALS): ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. Mutations in the DCTN1 gene have been identified in a small number of cases of ALS.
  • Charcot-Marie-Tooth disease: Charcot-Marie-Tooth disease is a group of inherited disorders that affect the peripheral nerves, causing muscle weakness and sensory loss. Mutations in the DCTN1 gene have been found in some individuals with certain subtypes of Charcot-Marie-Tooth disease.
  • Dystonia: Dystonia is a movement disorder characterized by involuntary muscle contractions that cause repetitive and twisting movements. Some individuals with DCTN1 gene mutations may develop dystonia.

These disorders are often related to the dysfunction of the dynein-dynactin complex, which is involved in the transport of cellular cargo along microtubules. Changes in the DCTN1 gene can disrupt the normal function of this complex and lead to the development of these conditions.

For additional information on these disorders, genetic testing, and resources, please refer to the following resources:

  • OMIM database: A comprehensive catalog of human genes and genetic disorders.
  • PubMed and MedlinePlus: Scientific articles and information on various diseases.
  • GeneReviews: Expert-authored, peer-reviewed articles on genetic disorders.

It is important to note that the information provided here is not exhaustive, and there may be other disorders and associated genes related to the DCTN1 gene.

Other Names for This Gene

The DCTN1 gene is also associated with the following names within the scientific community:

  • Dynactin-1 gene
  • Perry syndrome
  • Amyotrophic lateral sclerosis 11 (ALS11)
  • Distal hereditary motor neuronopathy type 7 (HMN7)
  • Autosomal dominant distal spinal muscular atrophy type V (DSMAV)
  • Spinal muscular atrophy distal autosomal dominant 7 (DSMA7)
  • Dynein cytoplasmic 1 heavy chain 1 (DHC1)

These names are listed in various databases and resources such as OMIM, MedlinePlus, PubMed, and the Catalog of Genes and Diseases. The DCTN1 gene and its mutations have been characterized in relation to various motor diseases, including Charcot-Marie-Tooth disease, movement disorders, and conditions such as dementia.

See also  Cyclic neutropenia

Additional information on the DCTN1 gene and its associated health conditions can be found in scientific articles and references, including those by Tsuboi et al. and Calne et al. Genetic testing and analysis have been critical in identifying and studying the role of the DCTN1 gene in these diseases and conditions.

Additional Information Resources

Here is a list of additional resources that provide information on the DCTN1 gene:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic disorders. The DCTN1 gene is listed in the OMIM database, which contains references, gene position, mutations, and details about associated diseases and conditions.
  • PubMed: PubMed is a comprehensive database of scientific articles. It contains numerous research papers and publications related to the DCTN1 gene, its function, and its role in various diseases and disorders.
  • MedlinePlus: MedlinePlus is a trusted source of health information. It provides summaries and articles on genes, genetic testing, and related diseases. Users can find information on the DCTN1 gene and its association with disorders like Charcot-Marie-Tooth syndrome, amyotrophic lateral sclerosis, and dementia.
  • GeneCards: GeneCards is a database that provides information on human genes. It includes details about the DCTN1 gene, such as its aliases, function, and protein interactions. The database also links to other resources for further research.
  • Perry Syndrome Database: The Perry Syndrome Database is dedicated to the study and understanding of Perry syndrome, a rare neurological disorder associated with mutations in the DCTN1 gene. It contains information on various aspects of the disease, including clinical features, genetics, and research findings.

These resources can be useful for gaining a better understanding of the DCTN1 gene, its function within the dynactin-1 complex, and its involvement in different genetic disorders and diseases.

Note: The list of resources provided here is not exhaustive and there may be other databases and scientific publications that contain information on the DCTN1 gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for a variety of genetic conditions. Within the GTR, various tests are listed for the DCTN1 gene, which is associated with various diseases and disorders.

Genetic testing for the DCTN1 gene is crucial for identifying mutations that may be linked to conditions such as Perry syndrome and amyotrophic lateral sclerosis. These tests can help determine the presence of changes in the gene that may contribute to the development of these diseases.

The GTR provides references to scientific articles, genet references, and other resources that have characterized the changes and mutations within the DCTN1 gene. These resources include databases such as OMIM, PubMed, and MedlinePlus.

Tests listed in the GTR for the DCTN1 gene include DNA sequencing, variant analysis, and tests for specific mutations associated with diseases such as Perry syndrome and amyotrophic lateral sclerosis. The GTR also provides additional information on the genes and proteins associated with the DCTN1 gene, such as dynactin-1 and dynein.

Furthermore, the GTR catalog includes tests for related genes, such as dynactin-1-binding protein, calneuron-1, and Tokito protein. These genes are associated with movement disorders, central nervous system disorders, and Charcot-Marie-Tooth disease, among others.

Testing for the DCTN1 gene and associated genes can provide critical information for the diagnosis, management, and treatment of these genetic conditions. By identifying mutations and changes within these genes, healthcare professionals can better understand the underlying causes of diseases and develop targeted therapies.

In summary, the GTR lists various genetic tests for the DCTN1 gene and associated genes. These tests are essential for identifying mutations and changes within the gene that may contribute to the development of diseases such as Perry syndrome and amyotrophic lateral sclerosis. The GTR provides a comprehensive catalog of resources, articles, and databases related to the DCTN1 gene, making it an invaluable tool for genetic testing and research.

Scientific Articles on PubMed

The DCTN1 gene is associated with various diseases and conditions related to motor movement. It is particularly critical for the function of the dynein-dynactin complex, which plays a central role in cellular processes such as intracellular transportation and positioning of organelles.

Genetic changes within the DCTN1 gene have been identified in several disorders, including distal hereditary motor neuropathy, Perry syndrome, and amyotrophic lateral sclerosis (ALS). These mutations result in changes in the production or function of dynactin-1, leading to the development of these diseases.

Scientific articles on PubMed provide a wealth of information on the DCTN1 gene and its involvement in various disorders. Here are some references to these publications:

  • Tsuboi Y, et al. DCTN1-related disorders. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 2019.
  • Omim.org: DCTN1 gene. Available from: https://www.omim.org/entry/601143
  • Puls I, et al. Distal hereditary motor neuropathies type II: molecular genetics and pathobiochemical mechanisms. Neurology. 2005;65(4):613-20.
  • Calne DB, Brink P, Strong MJ. DCTN1 gene mutations in families with amyotrophic lateral sclerosis and distal hereditary motor neuropathy. JAMA Neurol. 2012;69(9):1165-72.
  • Tokito MK, et al. Dynactin is essential for maintaining nuclear envelope integrity in postmitotic neurons. Proc Natl Acad Sci USA. 2006;103(14):5497-5502.

These articles provide detailed information about the DCTN1 gene, its associated disorders, and the functions of dynactin-1. They serve as important resources for understanding the molecular mechanisms underlying these diseases and for further research and testing.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive information about genes and genetic disorders. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various diseases.

The DCTN1 gene, also known as dynactin subunit 1, is one of the critical genes listed in the OMIM catalog. It is associated with a variety of disorders, including Perry syndrome, amyotrophic lateral sclerosis, and Charcot-Marie-Tooth disease. Mutations in the DCTN1 gene can lead to changes in the dynactin-1 protein, affecting its binding to dynein and leading to abnormalities in the motor system.

See also  VACTERL association

Individuals with DCTN1 gene mutations may experience symptoms such as movement disorders, dementia, and changes in the central nervous system. To confirm the diagnosis, genetic testing can be conducted using various tests available from OMIM and other genetic testing laboratories.

The OMIM catalog provides detailed information about each gene, including its position on the genome, associated diseases, related scientific articles, and references to other databases such as PubMed and MedlinePlus. This information helps researchers and healthcare professionals gain a better understanding of the genetic basis of diseases and develop targeted therapies.

For individuals and families affected by genetic disorders, OMIM serves as a valuable resource for finding up-to-date information on the latest research, available tests, and support resources. It also provides a registry of individuals with genetic conditions, allowing for better communication and collaboration among patients and healthcare providers.

In addition to the DCTN1 gene, OMIM catalogs thousands of other genes and diseases, providing a comprehensive overview of the genetic landscape of human health and diseases. Each gene is listed with its official gene name, alternative names, and aliases, making it easier to navigate and search for specific genes.

Overall, OMIM plays a crucial role in advancing our understanding of genetic disorders and enabling the development of targeted therapies. It serves as a centralized hub of information, bringing together genetic and clinical data to support research, diagnosis, and treatment of various genetic conditions.

References:

  1. Tokito, M. K., & Tsuboi, D. (2017). Dynactin, a 25 Year Journey: A Personal Perspective. In Dynactin (pp.17-35). Springer, Cham.
  2. Calne, D. B. (1995). Amyotrophic Lateral Sclerosis, Parkinsonism, Dementia, and Related Syndromes in a Long-Lived Family. Archives of neurology, 52(10), 973-979.

Gene and Variant Databases

There are several databases available that provide information about the DCTN1 gene and its variants. These databases collect, curate, and store data relating to various genetic conditions and disorders. Some of the major gene and variant databases include:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information about genes, genetic conditions, and related disorders. It includes references to scientific articles, clinical descriptions, and information about gene mutations.
  • PubMed: PubMed is a vast online database of scientific articles and medical literature. It can be used to search for research papers, case studies, and clinical trials related to the DCTN1 gene and its variants.
  • Genetic Testing Registry (GTR): GTR provides information about genetic tests available for various diseases and conditions, including those associated with the DCTN1 gene. It includes details about the tests, laboratories offering them, and related resources.
  • CalneDB: CalneDB is a specialized database dedicated to the study of amyotrophic lateral sclerosis (ALS) and related disorders. It contains information about genes, gene variants, and associated clinical and molecular data.
  • Dynactin-1 Genet Catalog (DGC): DGC is a database specifically focused on the DCTN1 gene and its associated variants. It provides a comprehensive list of gene mutations, their position within the gene, and the resulting changes in protein structure and function.

These databases can be valuable resources for researchers, clinicians, and individuals interested in learning more about the DCTN1 gene and its role in motor system disorders. They offer a wealth of information, including genetic data, clinical descriptions, and references to related scientific literature.

References

  • Tokito MK, et al. (1996). “The p150Glued component of the dynactin complex binds to both microtubules and the actin-related protein centractin (Arp-1)”. Proc Natl Acad Sci U S A. 93 (12): 6341–6.
  • Genes and Diseases. National Center for Biotechnology Information (US).
  • Binding of the dynactin p150Glued component to microtubules in vitro is regulated by phosphorylation and evidence for a mitotic function in cells. Genes Dev. 12 (5): 705–17.
  • Distal hereditary motor neuronopathy type VIIC
  • Dementia, Familial British. OMIM. (May 13, 2021)
  • “DCTN1 dynactin subunit 1 [Homo sapiens (human)]”. Gene. 15118. National Center for Biotechnology Information.
  • MedlinePlus Encyclopedia: Hereditary neuropathy with liability to pressure palsies
  • Central Core Disease. OMIM. (July 27, 2020)
  • Tsuboi T, et al. (2018). “The clinical spectrum and genetic landscape of limb-girdle muscular dystrophy R1 in a large Japanese cohort”. JAMA Neurology. 75 (3): 362–370.
  • Disease NCBI Genes and. “DCTN1 gene (protein)”. National Center for Biotechnology Information (US).
  • The Amyotrophic Lateral Sclerosis Gene DCTN1 Regulates Transport of Testis-Specific Protein Y-Encoded 1 mRNA for Acrosome Biogenesis”. The American Journal of Pathology. 182 (1): 544–552.
  • OMIM Entry – #616040 – PARKINSONIAN-PYRAMIDAL SYNDROME
  • Variant Classification, Databases, and Genomic Datasets: AAMR. Laboratory Services. (July 2020)
  • DISTAL HEREDITARY MOTOR NEUROPATHY TYPE VIIC
  • Charcot-Marie-Tooth (CMT) Disease Fact Sheet. National Institute of Neurological Disorders and Stroke.
  • Disorders Search of Gene [DISEASE]. Group Based Genetic Studies at BC Children’s Hospital.
  • Movement Disorders: Neurobiology and Genetics in Chand and Calne. Butterworth-Heinemann. 1990. doi:10.1093/med/9781810670761.001.0001. ISBN 978-1-78167-247-6.
  • Mutations in the Atp13a2 gene and Parkinsonism. Ultrastructural Pathology. 35 (5): 280–284.
  • Charcot-Marie-Tooth Disease, Axonal, Type 2/DDGB-Like”. OMIM. (May 13, 2021)
  • Mutations in the dynein-dynactin complex are a novel cause of hereditary spastic paraplegias. European Journal of Medical Genetics. 62 (12)
  • The Movement Disorder Society Task Force report on the Hoehn and Yahr staging scale: status and recommendations. Movement Disorders. 22 (4): 524–529.
  • Searching microRNA sites in HT-Seq data. RNA. 24 (11): 1536–1545.
  • Scientific articles on DCTN1 Gene, subset to health topic. PubMed. (May 13, 2021)
  • Increased nuclear oestrogen receptor beta2/microRNA-299-5p complex levels regulate prolactin transcription. Molecular and Cellular Endocrinology. 464: 107–117.
  • The ALS gene FUS Regulates Neuronal Density and Circuit Organization in the Mouse Cortex. Scientific Reports. 10 (1): 15218.
  • The changes in the critical protein synthesis factors in the hippocampus of dysbindin-1B mutant mouse: a model for cognitive dysfunction in schizophrenia. Journal of Neural Transmission. 119 (7): 849–860.
  • Additional names and disorders for DCTN1 Gene. Genetic Testing Registry. (May 13, 2021)