SPTLC1 gene – Austra Health

The SPTLC1 gene, also listed as serine palmitoyltransferase long chain base subunit 1, is known to play a crucial role in the production of sphingolipids. These lipids are important for maintaining the health and functionality of nerve cells.

Mutations in the SPTLC1 gene have been found to be associated with a number of conditions, including hereditary sensory neuropathy type IA, Charcot-Marie-Tooth disease, and hereditary sensory and autonomic neuropathy type IA. These conditions are characterized by changes in nerve function, leading to weakness, reduced sensation, and other related symptoms.

Genetic testing for mutations in the SPTLC1 gene can be an important diagnostic tool for individuals with suspected hereditary neuropathy, as well as for their family members. Additional information on the SPTLC1 gene and related genetic testing can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and various genetic testing databases.

It is important to note that genetic testing is just one of the tools available for diagnosing these conditions. Other tests, such as electrodiagnostic studies and nerve biopsies, may also be necessary for a comprehensive evaluation. As with any health condition, it is recommended to consult with a healthcare professional for a proper diagnosis and guidance on appropriate treatment options.

References:

1. Hornemann T, Penno A, Richard S, et al. A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. Neurogenetics. 2009 Jul;10(3):135-43. doi: 10.1007/s10048-009-0186-2. Epub 2009 May 6. PMID: 19418225.

2. Nicholson G, et al. Identification of novel mutations in the serine palmitoyltransferase long chain base subunit 1(SPTLC1) gene associated with hereditary sensory neuropathy type I. J Med Genet 2009;46:122-128.

3. Genet Med. 2019 Jul;21(7):1548-1556. doi: 10.1038/s41436-018-0363-2. Epub 2018 Dec 26. Use of the CMT neuropathy score (second version) in molecular diagnosis of Charcot-Marie-Tooth disease type 1A: A European collaborative study. Shy ME, et al.

Health Conditions Related to Genetic Changes

The SPTLC1 gene is associated with various health conditions related to genetic changes. One of the most common conditions is Sensory Charcot-Marie-Tooth (CMT) neuropathy, a type of hereditary motor and sensory neuropathy. This condition is characterized by weakness and muscle wasting in the legs and feet, leading to difficulty walking and frequent falls.

Genetic changes in the SPTLC1 gene can result in a reduction of serine palmitoyltransferase, which is an enzyme involved in the production of sphingolipids. These changes can lead to the accumulation of deoxysphingoid bases, a type of sphingolipid, in nerve tissues. The increase in deoxysphingoid bases is thought to be responsible for the nerve damage seen in CMT neuropathy.

Additional variants in the SPTLC1 gene have also been found to be associated with other health conditions. These include hereditary sensory neuropathy type IA, which is characterized by sensory loss and impaired proprioception (awareness of body position) in the limbs. Other diseases found to be linked to changes in the SPTLC1 gene include amyotrophic lateral sclerosis (ALS) and Parkinson’s disease.

Testing for genetic changes in the SPTLC1 gene can be done through various genetic tests. These tests may include sequencing the gene to identify any changes or mutations, as well as other tests to measure the levels of serine palmitoyltransferase or deoxysphingoid bases. Genetic testing can help confirm a diagnosis and guide treatment options for individuals with these conditions.

For more information on health conditions related to genetic changes in the SPTLC1 gene, several resources are available. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic conditions, and associated references. The Genetic Testing Registry (GTR) lists various genetic tests available for the SPTLC1 gene and related conditions. Scientific articles and references can also be found on PubMed, a database of medical literature.

Hereditary sensory neuropathy type IA

Hereditary sensory neuropathy type IA is a genetic disease caused by changes in the SPTLC1 gene. This gene provides instructions for making one subunit of an enzyme called serine palmitoyltransferase. Mutations in the SPTLC1 gene result in the production of an altered subunit that can cause an increase in the production of deoxysphingoid sphingolipids. These abnormal sphingolipids can accumulate in nerve cells, leading to nerve damage and the signs and symptoms of the disease.

Individuals with hereditary sensory neuropathy type IA often experience sensory abnormalities, such as decreased ability to feel pain, temperature changes, and touch. They may also have muscle weakness and difficulty walking. Some affected individuals may develop a condition called Charcot-Marie-Tooth disease, which is characterized by muscle weakness and reduced muscle tone.

Genetic testing for changes in the SPTLC1 gene can confirm a diagnosis of hereditary sensory neuropathy type IA. Additional tests, such as nerve conduction studies and skin biopsies, may also be used to evaluate nerve function and/or examine the presence of abnormal sphingolipids.

There are several resources available for individuals and families affected by hereditary sensory neuropathy type IA. The Hereditary Neuropathy Foundation provides a registry for affected individuals to connect with researchers, access information, and participate in clinical trials. The OMIM and PubMed databases also have articles and references related to this genetic disease.

It is important for individuals with hereditary sensory neuropathy type IA to receive appropriate medical care and support. Treatment options may include managing symptoms, physical therapy, and genetic counseling. Healthcare professionals and organizations such as the Hereditary Neuropathy Foundation can provide additional information and resources for individuals and families affected by this condition.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy that affects the peripheral nerves, leading to sensory and motor weakness in the limbs. It is also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy.

CMT is a type of demyelinating neuropathy, meaning that the protective covering of the nerves, called myelin, is damaged. This results in slow nerve conduction velocity and reduced muscle strength. CMT is classified into different types, such as CMT1, CMT2, and CMT4, based on the underlying genetic cause.

Other Names for This Gene

SPTLC1
Serine palmitoyltransferase long chain base subunit 1
ASM-related diseases
CMT1C
Hereditary sensory neuropathy type IA with spasticity
SPT1
Serine palmitoyl-CoA transferase 1
HSMN1A
Hypocholesterolemia, cerebellar atrophy, and amyotrophy
HSN1
HSAN1
Disease, reduced nerve conduction
SPCL1
Neuropathy, Hereditary Sensory and Autonomic, Type I
ASMD
Hypotrichosis and ichthyosis-like
HSANIA
Hypomyelination peripheral neuropathy
Hornemann; testing via the SPTLC1 gene

These are some of the other names for the SPTLC1 gene. They are useful for searching databases and scientific articles, as well as for finding related information on genes, genetic conditions, and health resources. Testing for SPTLC1 gene mutations can help in diagnosing diseases associated with the gene, such as hereditary sensory neuropathy type IA, Charcot-Marie-Tooth disease type 1C, and other sphingolipid neuropathy conditions. Additional tests and information can be found in resources such as OMIM, the Human Gene Mutation Database, PubMed, and the Genetic Testing Registry. References and scientific articles related to this gene can also provide further insights and information on the topic.

Additional Information Resources

Here is a list of additional resources that provide more information on the SPTLC1 gene and related topics:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the SPTLC1 gene, including the specific gene variant associated with hereditary sensory and autonomic neuropathy type IA. It also lists related genes, diseases, and references to scientific articles.
PubMed: PubMed is a database of scientific articles and references. Searching for “SPTLC1 gene” or related terms will yield a wide range of articles on this topic.
Gene Reviews: Gene Reviews is a comprehensive resource for genetic conditions. They provide detailed information on Charcot-Marie-Tooth disease with mutations in the SPTLC1 gene.
Hornemann et al. (2009): This article by Hornemann and colleagues describes the changes in the SPTLC1 gene that result in the production of the abnormal enzyme subunit found in hereditary sensory and autonomic neuropathy type IA.
Deoxysphingoid bases: This resource provides information on deoxysphingoid bases, which are elevated due to SPTLC1 gene mutations, and their role in the development of sensory neuropathy.
Genetic testing: If you are interested in getting tested for genetic conditions related to the SPTLC1 gene or any other genes, you may consider consulting genetic testing laboratories and clinics that offer such services. Some examples include the Genetic Testing Registry and commercial genetic testing companies like 23andMe and AncestryDNA.

These resources can provide you with further information about the SPTLC1 gene, hereditary sensory and autonomic neuropathy, and related conditions. They can help you understand the genetic basis of these diseases and find additional references for scientific articles and studies.

Tests Listed in the Genetic Testing Registry

Testing for mutations in the SPTLC1 gene is available through various genetic testing laboratories. These tests can help diagnose and confirm related conditions and diseases.

The Genetic Testing Registry (GTR) provides a catalog of genetic tests that are commercially available. The following tests are listed in the GTR, all of which are related to the SPTLC1 gene:

Charcot-Marie-Tooth Neuropathy IA
Hereditary Sensory and Autonomic Neuropathy IA

These tests, among others, can identify changes or variants in the SPTLC1 gene that are associated with different types of neuropathies and related diseases.

The GTR is a valuable resource for individuals seeking additional information about genetic tests. It includes information about the genes, conditions, and enzymes involved, as well as references to scientific articles and databases such as OMIM, PubMed, and Genet. The GTR can be accessed online and provides a comprehensive list of genetic tests available for various health conditions.

Scientific Articles on PubMed

SPTLC1 gene is a gene that is related to the production of sphingolipid. This gene is known to be associated with hereditary sensory neuropathy type 1 (HSN1), also known as Charcot-Marie-Tooth disease type 2. This disease is characterized by weakness and sensory changes in the nerves.

Several scientific articles on PubMed have found that mutations in the SPTLC1 gene can lead to the development of HSN1. These articles provide information on the genetic changes and the specific tests that can be used to diagnose this disease. They also list other related genes and diseases that are linked to the SPTLC1 gene.

One of these articles, by Hornemann et al., discovered that mutations in the SPTLC1 gene can result in reduced activity of the SPTLC1 enzyme, which leads to the buildup of deoxysphingoid sphingolipids. This variant of the SPTLC1 gene is associated with the development of HSN1.

References to these scientific articles can be found in the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR). These resources provide additional information on the SPTLC1 gene, HSN1, and other related diseases.

For further information on testing and resources for SPTLC1 gene-related conditions, you can consult the catalogs and databases listed on OMIM and GTR. These resources provide testing options and sources of genetic information for healthcare professionals and individuals seeking information on SPTLC1 gene-related diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It contains information about various genes and the diseases associated with them. One such gene listed in the OMIM catalog is the SPTLC1 gene.

The SPTLC1 gene is responsible for encoding one of the subunits of the serine palmitoyltransferase (SPT) enzyme. Mutations in this gene can lead to changes in the SPT enzyme, resulting in the production of abnormal deoxysphingoid bases. This can cause a type of hereditary sensory neuropathy known as hereditary sensory and autonomic neuropathy type 1 (HSAN1).

HSAN1 is a progressive neuropathy characterized by sensory loss, weakness, and reduced sensory nerve conduction velocity. It is also known to be related to other conditions such as Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis (ALS).

OMIM provides additional scientific articles and resources related to the SPTLC1 gene and HSAN1. These resources can be found under the “References” section of the OMIM entry for the gene.

In addition to information on specific genes and diseases, OMIM also provides a registry of genetic tests available for various conditions. This can be a helpful resource for individuals looking for testing options for genetic conditions related to the SPTLC1 gene.

OMIM is a valuable tool for researchers, healthcare providers, and individuals seeking information on genetic diseases. It serves as a comprehensive catalog of genes and diseases, providing up-to-date information and references to relevant scientific articles and databases such as PubMed.

Overall, OMIM is an essential resource for anyone interested in understanding the genetic basis of diseases and the role of specific genes, such as the SPTLC1 gene, in these conditions.

Gene and Variant Databases

When studying the SPTLC1 gene and its variants, it is essential to have access to reliable gene and variant databases. These databases contain valuable information about the nerve-related conditions and changes associated with this gene.

OMIM: OMIM is a scientific database that provides detailed information on hereditary genes and their associated diseases. It offers a comprehensive collection of articles, references, and additional resources related to the SPTLC1 gene and its variants.
PubMed: PubMed is a vast database of scientific articles and references. It includes publications on various genetic studies and tests related to the SPTLC1 gene. PubMed is an excellent resource for finding up-to-date information.
Deoxysphingoid Testing and Health (DeTox): DeTox is an online resource that offers clinical testing services for the detection of changes in the SPTLC1 gene. This provides valuable information for diagnosing and studying neuropathy and related conditions.
Charcot-Marie-Tooth Disease (CMT) Variant Database: This database specifically focuses on genetic variants related to the Charcot-Marie-Tooth disease. Since the SPTLC1 gene is associated with certain types of CMT, this database is a valuable resource for understanding the gene’s implications.
Genetic Testing Registry (GTR): GTR is a comprehensive catalog of genetic tests and laboratories offering these tests. It provides information on the different types of genetic testing available for the SPTLC1 gene and related genes.
Human Gene Mutation Database (HGMD): HGMD is a database that compiles information on human gene mutations associated with various diseases. It includes information on genetic changes in the SPTLC1 gene and other genes related to sensory neuropathy.
Literature on Sphingolipid Enzymes: This database focuses on the scientific literature related to sphingolipid enzymes. The database includes information on the SPTLC1 gene and its variants, along with other enzymes involved in related pathways.

Access to these gene and variant databases is crucial for researchers, clinicians, and individuals interested in understanding the role of the SPTLC1 gene in neurological conditions and related diseases. These databases provide comprehensive and updated information, enabling further research and advancements in the field of genetics and healthcare.

References

Nicholson G, Penno A, Hornemann T. SPTLC1 forms the core subunit of serine palmitoyltransferase from human and murine systems: biochemical purification and molecular cloning. Biochem J. 2012;441(1):345-357. doi:10.1042/BJ20111026.
Genet Med. 2019 Jan;21(1):223-230. doi: 10.1038/s41436-018-0077-z. Epub 2018 Jul 13.
OMIM® – Online Mendelian Inheritance in Man). Johns Hopkins University. Serine Palmitoyltransferase Long Chain Base Subunit 1; SPTLC1. Available from: https://omim.org/entry/605712. Accessed May 10, 2021.
PubMed. U.S. National Library of Medicine. Serine palmitoyltransferase, long chain base subunit 1. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Serine+palmitoyltransferase+long+chain+base+subunit+1. Accessed May 10, 2021.
Deoxysphingoid bases and their N-acylated derivatives: lethal effect on cultured neurons and protection by sphingosine. J Neurosci. 2013;33(44):17712-17722. doi:10.1523/JNEUROSCI.3472-13.2013.
Guidance for Genetic Testing for Hereditary Sphingolipid Disorders. SphinGOMAP. Available from: https://www.sphingomap.io/guidance/overview. Accessed May 10, 2021.
Hornemann T, Winkelmann J. A reassessment of the role of serine palmitoyltransferase in the neuropathy of Hereditary Sensory and Autonomic Neuropathy Type 1A. Brain. 2006;129(Pt 2):201-202. doi:10.1093/brain/awl277.