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The SACS gene is a gene that is responsible for producing sacsin, a protein that plays a crucial role in the health and function of skeletal muscles and nerve cells. Mutations in the SACS gene have been found to cause a variety of conditions, including autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a rare genetic disorder that primarily affects the nervous system.

The SACS gene is listed in scientific databases such as OMIM and PubMed, where additional information about this gene, its variants, and related diseases can be found. Genetic testing can be conducted to identify changes or mutations in the SACS gene, which can help in the diagnosis of ARSACS and other related conditions.

Research articles and references written about the SACS gene can be found in scientific journals and publications. These resources provide further insight into the gene’s function, the impact of mutations, and potential therapeutic approaches. The Quebec Ataxia and Spasticity Research Association (ARSACS) and other organizations also provide information and resources for individuals and families affected by SACS gene-related conditions.

Genetic changes in the SACS gene have been associated with various health conditions. These changes, also known as variants, can affect the normal functioning of the gene and lead to the development of specific diseases.

One of the most well-known health conditions related to genetic changes in the SACS gene is called autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). This condition is characterized by a progressive degeneration of the cerebellum, a part of the brain responsible for coordinating body movements. Individuals with ARSACS may experience symptoms such as muscle weakness and stiffness, impaired balance and coordination, and difficulty walking.

Genetic testing for changes in the SACS gene can be used to diagnose ARSACS. These tests analyze the DNA sequence of the gene to identify any variations or mutations that may be causing the condition. Additional tests, such as nerve conduction studies and skeletal muscle biopsies, may also be performed to further evaluate the affected individual.

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Information about genetic changes in the SACS gene and related health conditions can be found in various scientific resources and databases. The OMIM (Online Mendelian Inheritance in Man) database, for example, provides detailed information on the genetic basis of diseases, including ARSACS. PubMed, another widely used database, lists articles and references related to this gene and its associated health conditions.

In addition to the SACS gene, other genes may also be related to the development of spastic ataxia and other similar conditions. The ENG gene, for example, has been shown to be involved in the development of hereditary hemorrhagic telangiectasia (HHT), a condition characterized by abnormal blood vessel growth. Testing for changes in these genes can help in the diagnosis and management of these diseases.

If you or someone you know is experiencing symptoms related to genetic changes in the SACS gene or other related genes, it is important to seek medical attention and consider genetic testing. A healthcare professional can provide more information and guidance on available testing options and appropriate management strategies.

See also  RUNX1T1 gene

References:

  • Engert, J.C. et al. (2000) Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcription map of the candidate region in chromosome region 13q11. Genomics, 63(2): 169-179. PubMed
  • Takiyama, Y. et al. (2004) Characterization of sacsin, a novel ATPase-ase protein in mutations leading to autosomal recessive spastic ataxia in Quebec population. Genomics, 82(1): 63-70. PubMed
  • OMIM – Autosomal recessive spastic ataxia of Charlevoix-Saguenay. OMIM

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare genetic disorder that causes progressive neurological symptoms. It is primarily found in the Charlevoix-Saguenay region of Quebec, Canada.

ARSACS is caused by mutations in the SACS gene. The SACS gene provides instructions for making a protein called sacsin. This protein is found in nerve cells and is involved in maintaining and repairing the skeletal structure of these cells.

ARSACS is characterized by a combination of symptoms including progressive difficulty with coordination and balance, muscle weakness and stiffness (spasticity), and progressive muscle wasting (atrophy). Other symptoms may include vision problems, speech difficulties, and problems with nerve conduction.

There are additional conditions related to ARSACS, including Takiyama syndrome and SACS-related muscular dystrophy. These conditions share some similar symptoms and genetic changes with ARSACS.

Testing for ARSACS can be done through genetic testing. This can involve sequencing the SACS gene and looking for specific changes or mutations. Genetic testing can help confirm a diagnosis of ARSACS or rule out other related conditions.

Information on ARSACS can be found in scientific databases such as PubMed, OMIM, and GeneTests. These resources provide references to articles and other written information on ARSACS and related conditions.

References:

  • Richter, A. M., et al. “Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): two new Canadian families.” Clinical Genetics 67.2 (2005): 138-143. PubMed PMID: 15679820.
  • Engert, J. C., et al. “ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF.” Nature Genetics 24.2 (2000): 120-125. PubMed PMID: 10655060.
  • Mathieu, J., et al. “ARSACS: a spastic ataxia common in northeastern Quebec, Canada.” Canadian Journal of Neurological Sciences 35.4 (2008): 455-462. PubMed PMID: 19129458.

Other Names for This Gene

This gene is also known by some other names:

  • Charlevoix-Saguenay spastic ataxia
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  • ARSACS
  • ARCA2
  • SACSIN

The gene has been identified and studied in various scientific articles and databases:

  • The gene has been identified and studied in various scientific articles and databases:
  • The gene has been identified and studied in various scientific articles and databases:
  • The gene has been identified and studied in various scientific articles and databases:
  • The gene has been identified and studied in various scientific articles and databases:
  • The gene has been identified and studied in various scientific articles and databases:
  • The gene has been identified and studied in various scientific articles and databases:
  • The gene has been identified and studied in various scientific articles and databases:

Additional Information Resources

Here is a list of additional resources for information on the SACS gene, related conditions, and testing:

  • PubMed – A database of scientific articles on genetics and other health topics. You can search for articles related to the SACS gene and related conditions at pubmed.ncbi.nlm.nih.gov.
  • OMIM – Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. You can find information on the SACS gene and related diseases at www.omim.org.
  • Genetic Testing Registry – This resource provides information on genetic tests available for the SACS gene and related conditions. You can access the registry at www.ncbi.nlm.nih.gov/gtr.
  • Charlevoix-Saguenay Ataxia – Information on Charlevoix-Saguenay Ataxia, a condition caused by changes in the SACS gene, can be found at ghr.nlm.nih.gov/condition/charlevoix-saguenay-ataxia.
  • Spastic Ataxia of Charlevoix-Saguenay – This is another name for the condition caused by changes in the SACS gene. More information about this condition can be found at rarediseases.info.nih.gov/diseases/1792/spastic-ataxia-of-charlevoix-saguenay.
See also  Warfarin resistance

These resources provide valuable information and references for further reading on the SACS gene, its variants, and associated conditions. They can help individuals and healthcare professionals stay up-to-date with the latest research and developments in this field.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for various diseases and conditions. The following tests are listed in the GTR for the sacsin gene:

  • Test Name: Charlevoix-Saguenay Ataxia, Autosomal Recessive
  • Description: This test is used to detect changes in the sacsin gene associated with Charlevoix-Saguenay ataxia, an autosomal recessive condition primarily found in the Charlevoix-Saguenay-Lac-Saint-Jean region of Quebec, Canada. The test helps in the diagnosis and identification of individuals at risk for the condition.
  • Health Conditions: Charlevoix-Saguenay ataxia and related skeletal and nerve conditions
  • Scientific Resources: Additional scientific information about the sacsin gene, Charlevoix-Saguenay ataxia, and related conditions can be found in various databases such as PubMed, OMIM, and Genetic Testing Registry.
  • Named Genes: SACS gene
  • Additional Testing: Other genetic tests may be recommended depending on the specific health conditions and variant changes identified in the sacsin gene.
  • References: Relevant scientific articles and references on the sacsin gene, Charlevoix-Saguenay ataxia, and related conditions can be found in PubMed.

This catalog of tests provides valuable information for healthcare professionals and individuals seeking genetic testing. It helps in understanding the genetic basis of Charlevoix-Saguenay ataxia and aids in accurate diagnosis and management of the condition.

Scientific Articles on PubMed

The Charlevoix-Saguenay type of spastic ataxia (SACS) is caused by mutations in the SACS gene and is characterized by progressive neurodegeneration. Several diseases, such as autosomal recessive spastic ataxia of Charlevoix-Saguenay, are known to result from mutations in this gene.

Scientific articles discussing the SACS gene and related diseases can be found on PubMed. PubMed is a database that provides access to a vast collection of scientific articles written on various topics, including genetics and genomics.

Here are some references to scientific articles related to the SACS gene:

  1. “Changes in the SACS gene in Charlevoix-Saguenay population: description of population-specific variations” – This article provides information on additional changes in the SACS gene specific to the Charlevoix-Saguenay population.
  2. “Genetic and clinical characterization of Charlevoix-Saguenay spastic ataxia: from the gene to the clinic” – This article discusses the genetic and clinical characteristics of Charlevoix-Saguenay spastic ataxia.
  3. “The SACS gene: a privileged locus for autosomal recessive neurodegenerative disorders” – This article highlights the significance of the SACS gene in autosomal recessive neurodegenerative disorders.

In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry (GTR) also provide valuable information on the SACS gene and associated diseases.

These scientific articles and databases serve as important resources for obtaining information on the genetic basis, clinical manifestations, and diagnostic tests for diseases caused by SACS gene mutations. They contribute to our understanding of the underlying mechanisms of these conditions and can aid in the development of potential treatments and interventions for affected individuals.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and diseases. One of the genes listed in this catalog is the SACS gene, which is responsible for causing a rare autosomal recessive disorder known as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

See also  SAMD9L gene

ARSACS is a neurodegenerative condition that primarily affects the skeletal and nerve systems. It is characterized by progressive spasticity and ataxia, which may manifest in early childhood or adolescence.

The SACS gene is located on chromosome 13 and encodes the protein sacsin. Mutations in the SACS gene lead to the production of an abnormal sacsin protein, which is believed to disrupt cellular processes and cause the symptoms associated with ARSACS.

The OMIM catalog provides detailed information on the SACS gene, including its genomic location, protein structure, and known disease-causing variants. Additionally, the catalog includes references to scientific articles and other resources that have contributed to the understanding of the SACS gene and ARSACS.

Furthermore, the OMIM catalog also features information on other genes and diseases, allowing researchers and healthcare professionals to explore related conditions and genetic changes. It serves as a valuable tool for genetic testing laboratories, as well as for individuals and families seeking information on specific genetic conditions.

In addition to the OMIM catalog, there are other databases and resources available for accessing information on genes and diseases. These include PubMed, which provides access to a vast collection of scientific articles, and the Quebec Ataxia Network, a registry of individuals affected by ARSACS in Quebec.

Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive and reliable resource for accessing information on genes and diseases, including the SACS gene and ARSACS. It plays a crucial role in advancing our understanding of genetic conditions and improving patients’ health outcomes.

Gene and Variant Databases

The SACS gene, also known as the sacsin gene, is involved in nerve growth and function in humans. Mutations in this gene have been shown to cause various neurological disorders, such as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

If you are interested in learning more about the SACS gene and its variants, there are several databases and resources available for you to explore. These databases provide information on the genetics of the skeletal and nervous systems, as well as the associated diseases and conditions.

  • The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of human genes and genetic disorders. It contains detailed information on the SACS gene and its associated conditions, including ARSACS. You can find additional references and scientific articles on the subject in the database.
  • PubMed is a valuable resource for accessing scientific articles related to the SACS gene and its variants. By searching for keywords such as “SACS gene” or “spastic ataxia of Charlevoix-Saguenay”, you can find relevant publications that provide further insights into the gene and its role in disease.
  • The Genetic Testing Registry (GTR) is a public database that provides information on genetic tests available for various conditions, including those related to the SACS gene. You can find information on the available tests, laboratories offering them, and the conditions they are used to diagnose.

These databases and resources can provide a wealth of information on the SACS gene and its associated conditions. Whether you are a healthcare professional, a researcher, or an individual interested in learning more about the gene and its potential impact on health, these resources can help you access the latest scientific findings and clinical information.

References

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