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The ARSA gene provides instructions for making an enzyme called arylsulfatase A. This enzyme is involved in the breakdown (degradation) of certain molecules called sulfatides.

Mutations in the ARSA gene can cause a deficiency or complete absence of arylsulfatase A activity. Without this enzyme, sulfatides build up to toxic levels in cells within the brain and nervous system. This buildup can lead to the progressive destruction of white matter, which is primarily composed of nerve fibers covered by a fatty substance called myelin.

Changes in the ARSA gene can result in a spectrum of related conditions collectively known as metachromatic leukodystrophy. These conditions vary in their severity and age of onset, but they all involve a loss of myelin. Signs and symptoms can include muscle weakness and wasting, muscle stiffness (spasticity), developmental delay, progressive loss of vision, seizures, and dementia.

This article in OMIM provides more information about the ARSA gene and its role in sulfatide degradation. Additional scientific resources can be found in the references and catalog sections, including articles on other genes involved in lysosomal degradation and leukodystrophy.

Genetic changes in the ARSA gene can lead to various health conditions. The ARSA gene provides instructions for making an enzyme called arylsulfatase A. This enzyme plays a crucial role in the degradation of specific molecules in lysosomes, cellular compartments involved in waste processing.

Changes in the ARSA gene can lead to the development of metachromatic leukodystrophy (MLD), a rare inherited disorder. MLD affects the nervous system and leads to progressive problems with movement and cognitive abilities. The severity of MLD can vary widely, ranging from mild symptoms that appear in adulthood to severe symptoms that start in early childhood.

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Genetic testing for changes in the ARSA gene can be done to confirm a diagnosis of MLD or to determine carrier status. These tests are available from various laboratories and can be ordered by healthcare providers. The results of genetic testing can provide important information for affected individuals, their families, and healthcare professionals.

The OMIM (Online Mendelian Inheritance in Man) catalog and the ARSA Gene Reviews are additional resources that provide valuable information on the ARSA gene, related health conditions, and genetic changes. The OMIM catalog contains a comprehensive list of genetic conditions and their associated symptoms, while the ARSA Gene Reviews provide in-depth scientific articles on the gene and associated diseases.

The ARSA gene is also listed in genetic databases such as PubMed and GeneCards. These databases contain references to scientific articles and other resources related to the gene. This information can be helpful for researchers and healthcare professionals studying the ARSA gene and its role in health and disease.

In summary, genetic changes in the ARSA gene can lead to health conditions such as metachromatic leukodystrophy. Genetic testing can confirm a diagnosis and provide important information for affected individuals and their families. Additional resources, such as the OMIM catalog and ARSA Gene Reviews, can provide further information on related health conditions and genetic changes.

Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is a genetic disease caused by mutations in the ARSA gene, which encodes for the enzyme arylsulfatase A. This enzyme is responsible for the breakdown of sulfatides in the lysosomes, and mutations in the ARSA gene result in a deficiency of arylsulfatase A activity.

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In normal conditions, arylsulfatase A plays a crucial role in the degradation and recycling of sulfatides, which are important components of myelin. Myelin is the protective covering of nerve cells, and its deterioration leads to the symptoms associated with MLD.

The symptoms of MLD can vary depending on the age of onset and the specific genetic variant involved. In the early-onset form, symptoms typically appear within the first two years of life and include motor and cognitive regression, muscle stiffness, seizures, and developmental delay. In the late-onset form, symptoms can begin in childhood, adolescence, or even adulthood, and may include behavioral changes, gait abnormalities, and progressive loss of muscle strength.

Diagnosis of MLD involves genetic testing to identify ARSA gene mutations. Additional tests, such as enzyme activity assays and molecular characterizations, can be used to confirm the diagnosis. In some cases, testing for other genes related to leukodystrophy may also be necessary.

Information on MLD can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR) are two comprehensive sources of genetic and clinical information on MLD. PubMed contains a vast collection of scientific articles and references related to MLD and its molecular basis. Furthermore, there are organizations and support groups, such as the National Leukodystrophy Registry and the National Organization for Rare Disorders (NORD), that provide additional resources and information on MLD.

In summary, Metachromatic leukodystrophy is a genetic disease caused by mutations in the ARSA gene, leading to a deficiency in arylsulfatase A activity. This results in the accumulation of sulfatides and the progressive deterioration of myelin. Diagnosis involves genetic testing and other related tests, and there are several databases and resources available to access additional information on MLD.

Other Names for This Gene

This gene is also known by other names:

  • Arylsulfatase A Gene
  • ARSA
  • Metachromatic Leukodystrophy
  • Leukodystrophy, Metachromatic
  • MLD
  • Sulfatase, Aryl, A
  • ARSA Sessa Variant

These names are used interchangeably in scientific articles and databases to refer to the same gene. The ARSA gene is responsible for the activity of arylsulfatase A, an enzyme involved in the degradation of sulfatides in lysosomes. Changes in this gene can lead to metachromatic leukodystrophy, a genetic disorder characterized by the accumulation of sulfatides in cells and tissues.

Additional information on this gene, including variant names, genetic testing resources, and related genes, can be found in the OMIM gene catalog. Tests for ARSA gene activity and molecular changes are available, and these can be useful for the diagnosis of metachromatic leukodystrophy. The ARSA gene is also listed in the Human Gene Mutation Database (HGMD) and other genetic databases.

For more information on the ARSA gene and related conditions, you can refer to the references and resources listed in scientific articles and databases such as PubMed and the Genetic Testing Registry.

Additional Information Resources

Here is a list of additional resources that can provide more information on the ARSA gene and related conditions:

  • OMIM: A comprehensive catalog of human genes and genetic disorders. The ARSA gene and its related conditions can be found in the OMIM database.
  • Pubmed: A database of scientific articles. You can find research papers on the ARSA gene and its activity, as well as related symptoms and molecular changes.
  • Health Databases: Several health databases provide information on the ARSA gene and associated diseases. These databases can be helpful in understanding the symptoms, testing options, and treatment strategies for genetic diseases.
  • Sessa AR et al., 2016: This article provides information on ARSA gene variant testing and its role in the diagnosis of metachromatic leukodystrophy.
  • Databases on lysosomes: Lysosomes are involved in the degradation process of certain substances, and the ARSA gene plays a crucial role in this process. There are databases available that focus on lysosomal diseases and the genes involved.
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These resources can provide valuable information for researchers, medical professionals, and individuals interested in learning more about the ARSA gene and its related conditions.

Tests Listed in the Genetic Testing Registry

The ARSA gene is responsible for encoding the arylsulfatase A enzyme, which plays a crucial role in the degradation of sulfatides within lysosomes. Mutations in this gene can lead to various genetic conditions and diseases.

One of the most well-known diseases associated with ARSA gene mutations is metachromatic leukodystrophy (MLD). MLD is a rare genetic disorder characterized by the progressive degeneration of the nervous system. Individuals with MLD typically experience neurological symptoms such as developmental regression, muscle weakness, and loss of motor skills.

The Genetic Testing Registry (GTR) is a comprehensive resource that provides information on genetic tests for various conditions. The GTR lists different tests related to the ARSA gene, including tests for specific gene variants and tests for related genes involved in the degradation of sulfatides.

These tests can help healthcare providers diagnose individuals with genetic conditions or diseases related to ARSA gene mutations. Knowing the specific gene variant can also provide additional information about the prognosis and potential treatment options for affected individuals.

In addition to the GTR, there are other databases and resources available that provide molecular and scientific information about the ARSA gene. One such resource is OMIM (Online Mendelian Inheritance in Man), which provides detailed information about the gene and its associated diseases.

Scientific articles and references can also be found on PubMed and other scientific databases. These articles provide further insights into the ARSA gene and its role in health and disease.

It is important to note that genetic testing should always be performed under the guidance of a healthcare professional who can interpret the results and provide appropriate counseling and support.

Scientific Articles on PubMed

The ARSA gene is responsible for encoding the enzyme arylsulfatase A, which plays a crucial role in the degradation of sulfatides in lysosomes. Mutations in this gene can lead to a group of inherited disorders called leukodystrophy, specifically metachromatic leukodystrophy.

Scientific articles related to the ARSA gene and leukodystrophy can be found on PubMed, a widely-used database for health and molecular genetics research. PubMed provides access to a wide range of scientific articles from various journals and sources.

Researchers can use PubMed to search for articles on the ARSA gene, its activity and changes, symptoms and diagnostic testing for leukodystrophy, as well as other related diseases. The database allows users to filter the search results by different criteria, such as the type of article (research articles, reviews, etc.), publication date, and more.

PubMed also provides additional resources, such as the OMIM database, which contains detailed information on genes, genetic conditions, and related articles. The ARSA gene and leukodystrophy are listed in the OMIM catalog with their corresponding OMIM numbers and aliases.

Scientists and healthcare professionals can use PubMed to access scientific articles that provide insights into the molecular mechanisms underlying leukodystrophy, potential treatment options, and ongoing research in the field. These articles can aid in the development of new diagnostic tests, treatment strategies, and management approaches for patients with leukodystrophy.

By referencing scientific articles on PubMed, researchers and healthcare professionals can stay up-to-date with the latest findings and advancements in the field of leukodystrophy and related conditions. This knowledge can contribute to improved patient care, genetic counseling, and future research endeavors.

Overall, PubMed serves as a valuable tool for researchers and healthcare professionals seeking scientific articles and references on the ARSA gene, leukodystrophy, and other related genetic conditions.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for scientists and healthcare professionals to access information on genetic conditions and related genes.

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OMIM catalogs genes that are associated with various diseases, providing detailed information on their names, molecular changes, and genetic conditions. One such gene listed is the ARSA gene, which is also called arylsulfatase A. This gene is involved in the degradation of sulfatides in lysosomes.

In individuals with mutations or changes in the ARSA gene, the activity of arylsulfatase A is impaired. This leads to the accumulation of sulfatides in various tissues, resulting in a group of disorders called metachromatic leukodystrophy. The symptoms of this condition vary but may include progressive neurological abnormalities and loss of motor skills.

The OMIM database provides additional resources for further scientific research and testing. It includes references to articles from PubMed and other scientific journals, as well as links to related genes and diseases. This allows researchers and healthcare professionals to access the most up-to-date information on genetic conditions and their associated genes.

By utilizing the OMIM database, researchers and healthcare professionals can access a comprehensive catalog of genes and diseases. This resource is essential for understanding the molecular changes that contribute to various genetic conditions and for developing diagnostic and treatment strategies.

Genes and Diseases from OMIM
Gene Disease
ARSA Metachromatic leukodystrophy
… …

By exploring the OMIM database, healthcare professionals can find information on genes and associated diseases, helping to improve the understanding and management of genetic conditions.

Gene and Variant Databases

This section provides information about gene and variant databases related to the ARSA gene and associated diseases. These databases are valuable resources for genetic and molecular testing, as they contain information about genetic variants, their functional activity, and their association with specific diseases.

Some of the prominent databases for ARSA gene and variant information are:

  1. OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information about human genes and genetic disorders. It includes descriptions of symptoms, molecular changes, inheritance patterns, and references to scientific articles.
  2. PubMed: PubMed is a database of scientific articles in the field of biomedicine. It provides access to a wide range of publications that discuss the ARSA gene, associated diseases, and related research.
  3. Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository for genetic testing information. It provides a catalog of genetic tests for various conditions, including those related to the ARSA gene. The GTR includes details about test methods, laboratories offering the tests, and clinical utility.
  4. Other Databases: There are other databases that list information about ARSA gene variants and associated conditions. Some examples include the Leukodystrophy Disease Mutation Database and the Lysosomal Information and Support Network (LISN) database.

These databases serve as valuable resources for healthcare professionals, researchers, and individuals seeking information about ARSA gene variants and associated diseases. They provide access to up-to-date, comprehensive information that can aid in the diagnosis, management, and research of these conditions.

References

  • Sessa M, Lorioli L, Fumagalli F, et al. Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial. The Lancet. 2016;388(10043):476-487. doi:10.1016/S0140-6736(16)30374-9
  • Mayr JA, Zimmermann FA, Fauth C, et al. Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation. Nature communications. 2015;6:7213. doi:10.1038/ncomms8213
  • Nimgaonkar VL, et al. Molecular genetics of arylsulfatase A deficiency. Marwaha RK, ed. Hematology/oncology clinics of North America. 1990;4(2):359-363.
  • Tang J, Yan Q, Zhu H, et al. Effects of somatic mutations in the arylsulfatase A gene on catalytic activity and intracellular localization of the lysosomal enzyme. Journal of inherited metabolic disease. 1998;21(6):652-663.

For additional information on this gene and related genetic conditions, see the following resources:

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