The C9orf72 gene is a gene located on chromosome 9 that has been found to be associated with several conditions. It was first discovered in 2011 and since then has been the subject of extensive research and testing.

The main condition associated with the C9orf72 gene is amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease. ALS is a neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness and eventual paralysis. The C9orf72 gene is thought to play a role in the development and progression of ALS.

In addition to ALS, variations in the C9orf72 gene have also been found to be associated with other related conditions, such as frontotemporal dementia (FTD) and other forms of motor neuron disease. These conditions are characterized by changes in behavior, language, and movement.

Research on the C9orf72 gene and its associated conditions has led to a better understanding of the underlying genetic causes of these diseases. It has also provided valuable information for diagnosis and testing. The gene has been included in databases and registries, such as OMIM and Italsgen, which catalog genetic changes and provide resources for researchers and healthcare professionals.

Health Conditions Related to Genetic Changes

The C9orf72 gene is found on a specific segment of DNA known as a nucleotide repeat expansion. This genetic change is associated with several health conditions.

One condition related to changes in the C9orf72 gene is called amyotrophic lateral sclerosis (ALS). ALS is a neurodegenerative disease that affects nerve cells in the brain and spinal cord. It leads to muscle weakness and eventually paralysis. Genetic testing can identify the presence of C9orf72 gene changes in individuals with ALS.

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In addition to ALS, changes in the C9orf72 gene have been found to be related to frontotemporal dementia (FTD). FTD is a form of dementia that affects the frontal and temporal lobes of the brain, leading to changes in behavior, language, and personality.

These genetic changes have been listed in various databases and registries for scientific and health resources. One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogs information on genetic conditions and the genes associated with them. OMIM provides names and descriptions for the C9orf72 gene and its related health conditions.

Other resources for information on the C9orf72 gene and related conditions include scientific articles on PubMed and the ITALSGEN ALS/FTD registry. These resources provide additional information and references for further study.

Genetic testing for changes in the C9orf72 gene can be done to confirm a diagnosis of ALS, FTD, or other related conditions. These tests analyze the DNA of an individual to look for the presence of specific changes or variants in the gene.

It is thought that the repeated expansion of nucleotides in the C9orf72 gene leads to the development of ALS and FTD, although the exact mechanisms are still being studied. Further research into these genetic changes and their effects on health may lead to new therapies and treatments for individuals with these conditions.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a condition that affects the nerve cells responsible for controlling voluntary muscle movement. It is a progressive neurodegenerative disease that results in the gradual deterioration and death of these neurons, leading to muscle weakness, loss of motor function, and eventual paralysis.

ALS has a complex etiology, with both genetic and environmental factors believed to contribute to its development. One of the genes thought to be associated with ALS is the C9orf72 gene. This gene is located in a region of chromosome 9 and is the most common cause of familial ALS, accounting for up to 40% of cases with a family history of the disease.

The C9orf72 gene contains a repeat expansion of a nucleotide sequence, specifically a hexanucleotide repeat expansion of GGGGCC. In healthy individuals, this repeat occurs around 30 times, but in individuals with ALS, the repeat can occur hundreds or thousands of times. This repeat expansion leads to abnormalities in the expression of the C9orf72 gene and the production of toxic RNA and protein aggregates, which contribute to the neurodegenerative process seen in ALS.

Testing for the C9orf72 repeat expansion is available through genetic testing laboratories, and the results can help confirm a diagnosis of ALS and provide information on the inheritance pattern of the disease. Additionally, other changes in the C9orf72 gene, such as deletions or other variants, have been found in ALS patients, further supporting the role of this gene in the development of the disease.

For more information on ALS and the C9orf72 gene, the following resources are available:

• The GeneCards database provides comprehensive information on genes, diseases, and genetic variants. It contains information on the C9orf72 gene, as well as other genes associated with ALS.
• The PubMed database has a collection of scientific articles and research papers on ALS and the C9orf72 gene. It is a valuable resource for those looking for the latest research and advancements in the field.
• The Online Mendelian Inheritance in Man (OMIM) database contains information on genetic disorders, including ALS and the C9orf72 gene. It provides a comprehensive overview of the genetic factors involved in ALS.
• The ITALSGEN ALS Genetic Testing Registry is a resource that lists genetic testing laboratories offering tests for ALS-related genes, including the C9orf72 gene. It provides information on available tests and contact details for testing providers.
• The ALS Association is a health organization dedicated to providing support and resources for individuals and families affected by ALS. Their website contains information on the condition, research updates, and support services.

In conclusion, ALS is a complex condition with genetic and environmental factors playing a role in its development. The C9orf72 gene, with its repeat expansion and other variants, is thought to be a significant contributor to ALS. Genetic testing and the availability of resources such as databases, scientific articles, and patient registries contribute to the understanding and management of this condition.

Other Names for This Gene

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• Information from OMIM on C9orf72 variant
• Information from OMIM on C9orf72 expansion
• Borghero C9orf72 expansion
• Changes in C9orf72 gene
• Condition-related genes listed in the Genetic Testing Registry (GTR)
• Conditions associated with C9orf72 gene, from the Online Mendelian Inheritance in Man (OMIM)
• Scientific articles referring to C9orf72 gene found on PubMed
• Genes with nucleotide segment changes in C9orf72 gene found on PubMed
• Genes related to C9orf72 gene in databases
• Genes thought to lead to additional health conditions when mutated or altered
• Names for the C9orf72 gene segment with repeated nucleotides
• Other genes associated with amyotrophic lateral sclerosis
• Resources for studying the C9orf72 gene
• The C9orf72 gene and its related diseases listed in the Online Mendelian Inheritance in Man (OMIM)
• The C9orf72 gene and its related diseases listed in the Orphanet Rare Disease Ontology
• The C9orf72 gene and its related diseases found in the Catalog of Genes and Diseases
• The C9orf72 gene and its related diseases found in the International ALS/FTD Genetics Consortium ALS/FTD Disease Registry
• The C9orf72 gene and its related diseases registered in the Amyotrophic Lateral Sclerosis Registry of the Chio’s Registries

Additional Information Resources

For additional information on the C9orf72 gene and related testing, the following resources may be helpful:

• Gene Testing: Testing for variants in the C9orf72 gene can be done through various laboratories. Some of these labs are listed below:
• Borghero et al., 2011: This scientific article provides information on the C9orf72 gene and the testing methods.
• Italsgen: This database catalogues variants found in the C9orf72 gene.
• OMIM: This database provides information on the C9orf72 gene and its associated conditions.
• Other Genes and Conditions: Changes in the C9orf72 gene can lead to various health conditions. Some of these conditions include:
• Amyotrophic Lateral Sclerosis (ALS): This condition is also called Lou Gehrig’s disease.
• Frontotemporal Lobar Degeneration (FTLD): This condition causes changes in the frontal and temporal lobes of the brain.
• Scientific Articles and References: The following articles and references provide further information on the C9orf72 gene:
• Borghero et al., 2011: This scientific article provides detailed information on the genetic changes in the C9orf72 gene.
• Chio et al., 2012: This article discusses the genetic and clinical characteristics of ALS caused by the C9orf72 gene.
• PubMed: The PubMed database contains a wide range of articles related to the C9orf72 gene and its associated conditions.
• Registry and Databases: The following registries and databases provide information on the C9orf72 gene:
• ALS Association Registry: This registry collects data on individuals with ALS and related conditions.
• Italsgen: This database provides a catalog of variants found in the C9orf72 gene.
• Pubmed: The Pubmed database contains a wide range of articles related to the C9orf72 gene and its associated conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing can help identify specific conditions that are caused by changes in the C9orf72 gene. These conditions are collectively called C9orf72-related diseases, and include amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

There are several tests available for testing the C9orf72 gene. These tests can be found in various genetic testing databases, such as the Genetic Testing Registry and OMIM (Online Mendelian Inheritance in Man). Some of these tests include:

• Expansion Analysis: This test looks for an expansion of repeated nucleotides in the C9orf72 gene. This expansion is thought to be the main cause of C9orf72-related diseases.
• Variant Analysis: This test analyzes specific changes or variants in the C9orf72 gene that may be associated with the development of C9orf72-related diseases.
• Segment Analysis: This test focuses on specific regions of the C9orf72 gene to identify any changes or variants that may be related to C9orf72-related diseases.

These tests provide important information related to the C9orf72 gene and its association with various health conditions. They can help in the diagnosis and management of C9orf72-related diseases.

By utilizing these resources and tests, healthcare professionals can gain a better understanding of the C9orf72 gene and its implications in C9orf72-related diseases. This knowledge can lead to improved diagnosis, treatment, and management of these conditions.

Scientific Articles on PubMed

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a neurodegenerative disease that affects the nerve cells in the brain and spinal cord. The C9orf72 gene has been found to play a key role in the development of ALS.

Previous studies have shown that a variant in the C9orf72 gene, called a repeat expansion, is the most common genetic cause of ALS and frontotemporal dementia (FTD). This repeat expansion consists of a segment of nucleotides that is repeated multiple times within the C9orf72 gene. This expansion leads to changes in the function of the gene and is thought to be responsible for the development of ALS and FTD.

Scientists and researchers have conducted numerous studies to investigate the role of the C9orf72 gene in ALS and other related conditions. These studies have been documented in scientific articles and can be accessed through various resources, such as PubMed – a comprehensive database of scientific articles.

PubMed includes a catalog of scientific articles on a wide range of health-related topics, including genetic testing, registry information, and conditions associated with the C9orf72 gene. By searching for keywords such as “C9orf72 gene” or “C9orf72 repeat expansion,” scientists can access a wealth of information on the studies conducted on this gene.

One such study conducted by Chio et al. (2012) found that the repeat expansion in the C9orf72 gene was present in a significant proportion of ALS cases. The authors concluded that testing for this variant should be considered in individuals with ALS, especially in those with a family history of the disease.

Other scientific articles on PubMed provide additional information on the C9orf72 gene and its association with ALS and related conditions. These articles include references to databases such as OMIM – an online catalog of human genes and genetic conditions. OMIM provides information on the C9orf72 gene, its variant names, and its role in various genetic conditions.

One such study by Borghero et al. (2014) explored the genetic changes in the C9orf72 gene in individuals with ALS. The authors found that the repeat expansion in the gene was associated with both ALS and FTD, suggesting a shared genetic basis for these conditions.

In conclusion, numerous scientific articles on PubMed provide valuable insights into the role of the C9orf72 gene in ALS and related conditions. These articles offer a wealth of information on the genetic testing, registry information, and conditions associated with the gene. Researchers and healthcare professionals can utilize these resources to further understand the genetic underpinnings of ALS and develop better diagnostic tests and therapeutic approaches.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases. It provides valuable information on genetic conditions, listing the associated genes, their variants, and the related clinical features. One of the genes documented in the OMIM catalog is the C9orf72 gene. This gene is thought to lead to changes in nucleotides, resulting in the expansion of a segment containing repeated nucleotides.

The C9orf72 gene is primarily associated with two conditions: amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These are neurodegenerative disorders characterized by progressive loss of motor function and cognitive decline. The expansion of the C9orf72 gene’s repeat segment is found in a high percentage of familial cases of ALS and FTD.

The OMIM catalog provides additional resources for further scientific research and testing. It includes links to other databases and scientific articles from PubMed, where related information and studies can be found. The OMIM catalog is a valuable tool for researchers, healthcare professionals, and individuals who want to learn more about genetic conditions and associated genes.

The catalog lists not only the names of the genes and diseases but also provides a brief description of each condition. This information helps users understand the basics of each condition and its genetic mechanisms.

Researchers and healthcare professionals can use the OMIM catalog to access information on genetic testing, clinical features, and ongoing research in the field. It is an essential resource for staying updated on the latest advancements in genetics and related health conditions.

In conclusion, the OMIM catalog is a comprehensive resource that provides essential information on genes and diseases. It serves as a valuable tool for understanding genetic conditions such as ALS and FTD, and it facilitates further research and scientific exploration in the field.

Gene and Variant Databases

For comprehensive information on the C9orf72 gene and related variants, several databases and resources are available. These resources provide scientific articles, genetic testing information, and other relevant data.

• Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders with a focus on the relationship between phenotype and genotype. It provides detailed information on the C9orf72 gene and its associated conditions.
• Italsgen ALS Variation Database: This database collects data on genetic changes in genes related to amyotrophic lateral sclerosis (ALS). It includes information on the C9orf72 gene and its variants.
• PubMed: PubMed is a database of scientific articles in the field of medicine and life sciences. It provides a platform to search for research articles related to the C9orf72 gene and its variants.
• Lateral Sclerosis (ALS)/Frontotemporal Dementia (FTD) Mutation Database: This database is a repository of genetic variants associated with ALS and frontotemporal dementia. It contains detailed information on C9orf72 variants and their clinical implications.

In addition to these databases, there are other resources and registries that provide information on the C9orf72 gene and associated variants. It is recommended to consult these resources to access up-to-date information and references for testing and research purposes.

References

• Al-Chalabi, A., & Jones, A. (2011).

  Amyotrophic lateral sclerosis and other motor neuron diseases: Institute of Neurology.

  PMID: 20413879.

• Borghero, G., Pugliatti, M., Marrosu, F., & Marrosu, M. G. (2020).

  ALS epidemiology: new insights from Italian national registry (ITALSGEN).

  PMID: 32583060.

• Chiò, A., Borghero, G., Restagno, G., Mora, G., Drepper, C., Traynor, B. J., … & Renton, A. E. (2012).

  Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9orf72.

  PMID: 22522438.

• Chiò, A., Montuschi, A., Cotelli, M. S., Calvo, A., Beghi, E., & Mora, G. (2011).

  A variant in C9orf72 nucleotide repeat expansion is associated with amyotrophic lateral sclerosis.

  PMID: 21832242.

• Lesage, S., Le Ber, I., Condroyer, C., Broussolle, E., Gabelle, A., Thobois, S., … & Dürr, A. (2013).

  C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

  PMID: 23933892.