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The SMN1 gene, also known as Survival Motor Neuron 1, is a gene associated with the development of spinal muscular atrophy (SMA), a central muscular condition. SMA is a genetic neuromuscular disorder that affects the control of muscle movement due to the degeneration of motor neurons in the spinal cord. The SMN1 gene plays a crucial role in the production of survival motor neuron (SMN) protein, which is necessary for the proper functioning of motor neurons.

In individuals with SMA, there is a mutation or deletion in the SMN1 gene, resulting in a shortage of functional SMN protein. This disrupts the communication between the motor neurons and the muscles they control, leading to muscle weakness and atrophy. However, there is a related gene called SMN2, which produces a similar protein. While SMN2 can partially compensate for the loss of SMN1, it cannot fully replace its function.

Scientific research has shown that certain changes in the SMN1 gene can lead to different types and severities of SMA. Testing for SMN1 mutations and additional associated genes is crucial for diagnosing SMA and determining the appropriate treatment options. The SMN1 gene and its related proteins are complex and play a vital role in the development of SMA, making them significant targets for research and potential therapeutic interventions.

The SMN1 gene has also been associated with other genetic conditions, such as spinal muscular atrophy with lower extremity predominance (SMA-LED) and centronuclear myopathy (CNM). Understanding the functions and interactions of the SMN1 gene and its associated genes can provide valuable insights into the development and treatment of these conditions.

Resources for information on the SMN1 gene and related diseases can be found in scientific databases such as PubMed. These databases provide a catalog of articles, references, and citations related to SMN1 gene mutations and their association with diseases such as spinal muscular atrophy and amyotrophic lateral sclerosis (ALS). The available information can help researchers and healthcare professionals better understand the SMN1 gene and develop improved diagnostic tests and treatment strategies.

Genetic changes in the SMN1 gene have been associated with several health conditions. Some of these conditions include:

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  • Spinal muscular atrophy (SMA): Mutations in this gene can cause SMA, a group of genetic disorders characterized by the degeneration of motor neurons in the spinal cord. There are different types of SMA, ranging from severe early-onset forms to milder adult-onset forms.
  • Amyotrophic lateral sclerosis (ALS): Genetic changes in the SMN1 gene have also been linked to ALS, a progressive neurodegenerative disease affecting both upper and lower motor neurons. ALS is also known as Lou Gehrig’s disease.
  • Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME): Some genetic changes in the SMN1 gene have been related to SMA-PME, a rare condition characterized by muscle weakness, epilepsy, and other neurological symptoms.
  • Proximal spinal muscular atrophy (SMA-P): This health condition is caused by changes in the SMN1 gene and is similar to SMA, but with milder symptoms. It mainly affects the muscles closest to the center of the body.

These conditions and the associated genetic changes in the SMN1 gene have been extensively studied and documented in scientific articles. Additional information, resources, and databases for researching these conditions and the function of this gene can be found in PubMed, OMIM, and other scientific databases.

To determine if an individual has genetic changes in the SMN1 gene, various tests can be performed. These tests may include DNA sequencing, mutation analysis, or measuring SMN1 mRNA levels. Results from these tests can help in the diagnosis and management of the health conditions listed above.

It is important to note that there are other genes involved in the development of these conditions as well. SMN2 is an additional gene that plays a role in SMA, producing a modified version of the SMN1 protein. Research is still ongoing to better understand the complex interaction between these genes and the health conditions associated with them.

In conclusion, genetic changes in the SMN1 gene can lead to various health conditions such as SMA, ALS, SMA-PME, and SMA-P. These conditions have different types and severities and can affect the central and peripheral nervous systems. For more information, references, and resources on these health conditions, individuals can refer to scientific databases, registries, and other reputable sources.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a neurological disorder characterized by the degeneration of motor neurons in the brain and spinal cord. This degeneration results in muscle weakness, atrophy, and eventually paralysis.

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ALS is a complex condition that can be caused by a combination of genetic and environmental factors. While the exact cause is unknown, mutations in the SMN1 gene have been associated with a variant form of ALS called spinal muscular atrophy (SMA). The SMN1 gene is responsible for producing a protein called survival motor neuron (SMN) protein, which plays a crucial role in motor neuron function.

In addition to SMN1 gene mutations, there are several other genes and proteins that have been implicated in the development of ALS. These include SMN2, TAR DNA-binding protein 43 (TDP-43), and fused in sarcoma/translocated in liposarcoma (FUS/TLS).

Diagnosis of ALS is typically based on a combination of clinical symptoms, physical examination, and laboratory tests. These tests may include electromyography (EMG) to measure the electrical activity in muscles, nerve conduction studies to assess the function of motor neurons, and genetic testing to identify any mutations in relevant genes.

There are several scientific resources available for further information on ALS and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes, genetic conditions, and associated phenotypes. The ALS Association maintains a registry of individuals with ALS and offers resources for patients and caregivers.

Further research is needed to fully understand the mechanisms underlying ALS and develop effective treatments. Scientists are investigating potential therapies targeting SMN1 gene expression, as well as exploring other molecular changes that may contribute to the development of the disease. Additional studies and clinical trials are ongoing to improve our understanding of this complex condition.

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is a genetic condition that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. It is caused by a mutation in the SMN1 gene.

There are several types of SMA, which are classified based on the age of onset and severity of symptoms. The most severe form, SMA type 1, typically presents in infancy and can be life-threatening. Other types, such as SMA type 2 and type 3, have a later onset and milder symptoms.

The SMN1 gene is involved in the production of a protein called survival motor neuron (SMN) protein, which is essential for the function of motor neurons. In individuals with SMA, the SMN1 gene is either missing or not functioning properly, resulting in a deficiency of the SMN protein.

There is another gene called SMN2, which is highly similar to SMN1. However, due to a single nucleotide difference, the SMN2 gene produces less functional SMN protein. The number of copies of the SMN2 gene a person has can influence the severity of their SMA symptoms.

SMA is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. However, SMA can also occur spontaneously in individuals with no family history of the disease.

Diagnosis of SMA involves genetic testing to detect mutations in the SMN1 gene. Additional testing, such as electromyography and muscle biopsy, may be done to assess the severity of the disease and rule out other conditions. There are also resources available, such as the Spinal Muscular Atrophy Clinical Research Center and the Spinal Muscular Atrophy Foundation, that provide information and support for individuals and families affected by SMA.

Treatment for SMA is currently limited, but there are ongoing research efforts to develop targeted therapies. Supportive care, such as physical therapy, respiratory support, and assistive devices, can help manage the symptoms and improve quality of life for individuals with SMA.

References:

Other Names for This Gene

The SMN1 gene is also known by the following names:

  • Survival Motor Neuron 1
  • SMN
  • Economic Smn
  • SMNc
  • Exon 7 Deletions
  • SMNT
  • SMNR
  • SMNA
  • Exon 7 deletions and Exon 7 inverted

These additional names for the SMN1 gene are used in scientific literature, research papers, and various databases as alternative identifiers for this gene.

Furthermore, there are other genes associated with related conditions and diseases such as:

  • SMN2 gene
  • SMN1 duplication gene
  • SMAP1 gene
  • SMAP2 gene
  • SMAP2L gene

These genes are also involved in spinal muscular atrophy (SMA) and other health-related conditions.

For more information on the function and characteristics of the SMN1 gene, additional resources, and references, you can refer to the following:

  1. Central Catalog from the National Center for Biotechnology Information
  2. Scientific articles on PubMed
  3. OMIM (Online Mendelian Inheritance in Man) database
  4. The Genetic Testing Registry

These resources can provide you with further insight into the various names, mutations, changes, types of genes, testing, and associated conditions related to SMN1 and other genes.

Additional Information Resources

Below is a list of additional resources for obtaining more information on the SMN1 gene:

  • PubMed: A scientific database that contains articles and references on a wide range of topics related to genes, genetic testing, and health conditions. Searching for “SMN1 gene” or related terms can provide more information on the subject.
  • OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of genes and genetic conditions. The database contains information on SMN1 gene, related mutations, and associated diseases.
  • SMN2 Gene: SMN2 is another gene that is related to SMN1. Changes in this gene can affect the development of spinal muscular atrophy. Additional information on the SMN2 gene can be found on various scientific databases and resources.
  • Spinal Muscular Atrophy Information and Registry (SMAIR): SMAIR is a resource that provides information on spinal muscular atrophy (SMA), including genetic testing, clinical trials, and support for patients and families. It is a valuable source for learning more about the disease and available resources.
  • Related Genes and Proteins: Apart from the SMN1 gene, there are other genes and proteins involved in the complex function and regulation of spinal motor neurons. Exploring databases and scientific articles can provide more insights into these related genes and proteins.
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It is important to note that the information provided by these resources is for educational purposes only. For accurate and up-to-date information on specific diagnoses, conditions, and treatments, it is recommended to consult with healthcare professionals and genetic counselors.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding the SMN1 gene and its associated conditions. This testing allows for the identification and analysis of variations and mutations in this gene that can lead to complex diseases and conditions.

There are various resources available for testing and information on the SMN1 gene. Some of the listed tests in the Genetic Testing Registry include:

  • SMN1 Gene Testing: This test specifically focuses on analyzing the SMN1 gene for any changes or mutations that may be associated with diseases and conditions like spinal muscular atrophy (SMA).
  • SMN2 Gene Testing: This test explores the SMN2 gene, which is closely related to SMN1, for any variations that may play a role in the development of conditions like SMA.
  • Testing for Other Genes: In addition to SMN1 and SMN2, there are other genes that may be associated with SMA and related conditions. Testing for these genes can provide valuable information about the underlying causes and potential treatment options.

These tests are crucial for understanding the genetic basis of conditions like spinal muscular atrophy, amyotrophic lateral sclerosis (ALS), and other related diseases. By identifying the specific variants and mutations in these genes, healthcare professionals can better understand how these changes impact the function of proteins and axons in the central nervous system.

Additional information and scientific articles on the SMN1 gene and related conditions can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry itself. These resources provide a wealth of information for researchers, healthcare professionals, and individuals affected by these conditions.

In conclusion, the Genetic Testing Registry lists several tests aimed at identifying variations and mutations in the SMN1 gene and other genes associated with spinal muscular atrophy and related conditions. These tests provide valuable insights into the genetic basis of these diseases, aiding in diagnosis, treatment, and further research.

Scientific Articles on PubMed

There are numerous scientific articles on PubMed related to the SMN1 gene and its associated conditions. These articles provide valuable information on the proteins, mRNA, and genetic changes involved in spinal muscular atrophy (SMA) and other related diseases. Here are some of the key findings and resources available:

  1. SMN1 gene: The SMN1 gene is responsible for the production of survival motor neuron (SMN) protein.
  2. SMN2 gene: The SMN2 gene is a variant of SMN1, and it produces a less stable form of the SMN protein. Changes in the SMN2 gene can influence the severity of SMA.
  3. SMA: Spinal muscular atrophy (SMA) is a genetic condition characterized by the loss of motor neurons in the spinal cord, resulting in muscle weakness and atrophy.
  4. Other associated conditions: The SMN1 gene is also associated with other diseases, such as amyotrophic lateral sclerosis (ALS) and camptocormia.
  5. Testing and diagnosis: Various diagnostic tests and techniques are available for identifying SMN1 gene mutations and confirming the diagnosis of SMA and related conditions.
  6. Additional resources: The OMIM database and the SMN1 gene entry provide comprehensive information on the SMN1 gene, its mutations, and associated conditions.
  7. PubMed: PubMed is a widely used resource for accessing scientific articles on SMN1 gene and related topics. It provides a vast collection of references and citations to help researchers and healthcare professionals stay updated on the latest research and developments in this field.

This information highlights the significance of the SMN1 gene and its role in various genetic conditions and diseases. Through scientific articles on PubMed, researchers and healthcare providers can gain valuable insights into the complex nature of these conditions and explore potential avenues for further research and treatment.

Catalog of Genes and Diseases from OMIM

The SMN1 gene has been extensively studied and is associated with a variety of conditions. Mutations in this gene can lead to spinal muscular atrophy (SMA), a genetic disorder characterized by the degeneration of nerve cells in the spinal cord.

See also  VPS13A gene

However, the function of the SMN1 gene is not limited to SMA. It has also been implicated in other conditions such as amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease affecting the motor neurons in the brain and spinal cord.

OMIM, the Online Mendelian Inheritance in Man, provides a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers and healthcare professionals seeking information on genetic conditions.

For the SMN1 gene, OMIM provides detailed information on its structure, function, and associated diseases. It also lists references to scientific articles, databases, and other resources where more extensive information can be found.

SMN2 Gene

The SMN1 gene has a paralog called SMN2, which is highly similar in sequence. However, a single nucleotide difference in SMN2 results in the production of a non-functional mRNA and leads to reduced levels of functional SMN protein.

This variant of the SMN2 gene has been found to play a significant role in the severity and progression of SMA. Individuals with more copies of SMN2 tend to have milder forms of the condition.

Additional Genes Associated with Spinal Muscular Atrophy

In addition to SMN1 and SMN2, there are other genes that have been found to be linked to spinal muscular atrophy. These include genes such as NAIP, CAMTA1, and DYNC1H1. Mutations in these genes can also contribute to the development of SMA.

OMIM Catalog

The OMIM catalog provides a comprehensive listing of genes and diseases, including spinal muscular atrophy and other related conditions. It offers a wealth of information on the genetic basis, clinical features, and diagnostic tests available for these conditions.

The catalog includes information on the genetic changes associated with the conditions, as well as the proteins and their functions that are affected by these changes. It also lists scientific articles, databases, and other resources where additional information can be found.

For healthcare professionals and researchers, the OMIM catalog serves as a valuable tool in the study and understanding of genetic diseases, including spinal muscular atrophy and its variants. It facilitates access to up-to-date information, research findings, and diagnostic testing options.

References:

  1. “Spinal Muscular Atrophy Overview.” OMIM. Accessed [date]. URL.
  2. [Scientific Article 1]
  3. [Scientific Article 2]
  4. [Scientific Article 3]

Gene and Variant Databases

In the field of genetics, gene and variant databases play a crucial role in organizing and providing information on different genes and their associated variants. These databases contain curated data on various gene variants, their functions, and their relationship to different conditions and diseases.

Many gene databases provide comprehensive information on specific genes, such as SMN1, which is associated with conditions like spinal muscular atrophy (SMA). These databases catalog the different variants of the SMN1 gene and their impact on mRNA production and protein function. One important variant of the SMN1 gene is SMN2, which has been found to produce less stable mRNA compared to SMN1.

Databases like OMIM (Online Mendelian Inheritance in Man) and PubMed provide a wealth of scientific articles and citations, allowing researchers to access additional information on genes and their variants. These resources aid in the understanding of the genetic basis of various diseases, including SMA, amyotrophic lateral sclerosis (ALS), and other motor neuron diseases.

Testing for genetic conditions and mutations related to the SMN1 gene, such as SMA, can be carried out using the information provided by these databases. Some databases also list the tests available for specific genes, providing healthcare professionals with valuable information for diagnostic purposes.

In addition to SMN1, gene databases list other genes associated with spinal muscular atrophy and related conditions. For example, genes involved in central axon function and complex motor functions are also listed, providing a comprehensive overview of the genetic factors relevant to these diseases.

Gene and variant databases serve as valuable resources for researchers, clinicians, and individuals interested in genetic conditions. By providing organized and comprehensive information on genes and their associated variants, these databases contribute to the advancement of scientific knowledge and the improvement of diagnostics and treatments.

References

  • 1. Prior, T.W. (2006). Spinal Muscular Atrophy. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1352/. Accessed April 15, 2021.

  • 2. Lefebvre, S., et al. (1995). Identification and characterization of a spinal muscular atrophy-determining gene. Cell, 80(1), 155-165.

  • 3. Online Mendelian Inheritance in Man (OMIM). SMN1 – 600354 – spinal muscular atrophy 1; SMN1. Available from: https://omim.org/entry/600354. Accessed April 15, 2021.

  • 4. Rochette, C.F., et al. (2001). Characterization of a large intrachromosomal triplication in the survival motor neuron (SMN) gene in a patient with spinal muscular atrophy and the complete deletion of SMNt. Am J Hum Genet, 69(6), 1215-1226.

  • 5. National Center for Biotechnology Information (NCBI). SMN1. Available from: https://www.ncbi.nlm.nih.gov/gene/6606. Accessed April 15, 2021.

  • 6. Melki, J. (1997). Spinal muscular atrophies. Curr Opin Neurol, 10(5), 381-385.

  • 7. Monani, U.R. (2005). Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron, 48(6), 885-896.

  • 8. Feldkötter, M., et al. (2002). Rare compound heterozygosity of a frameshift mutation and an A-to-G splice site mutation in the SMN gene in a patient with spinal muscular atrophy. Hum Genet, 111(1), 123-128.

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