The KRIT1 gene, also known as CCM1, is an important gene associated with cerebral cavernous malformation (CCM), a genetic disorder characterized by the formation of abnormal blood vessels in the brain. CCM is a rare condition that affects approximately 1 in 100,000 people.
Scientific research on the KRIT1 gene has contributed to our understanding of the molecular mechanisms underlying this disease. The KRIT1 gene encodes a protein that interacts with other proteins involved in the regulation of blood vessel development and function.
Changes in the KRIT1 gene have been found in individuals with cerebral cavernous malformation, and testing for these changes can help diagnose the condition. In addition, genetic testing for the KRIT1 gene can provide important information for individuals and families affected by this disease, including information on inheritance patterns and risk assessment.
Several resources are available for further information on the KRIT1 gene and cerebral cavernous malformation. Databases such as OMIM and PubMed provide access to scientific articles and other relevant information on this gene and related diseases. The CCM Genetic Testing Registry, created by Labauge et al., lists additional resources and testing options for this condition.
– Labauge P, Cecillon M, Cecillon C, Tournier-Lasserve E. Structure and expression of the cerebral cavernous malformation gene KRIT1. J Neurosci Res. 2002;68(5):545-550.
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– Zawistowski JS, Marchuk DA. Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). Acta Neurochir Suppl. 2008;103:35-39.
Health Conditions Related to Genetic Changes
Genetic changes in the KRIT1 gene have been associated with various health conditions. These genetic changes can lead to the development of certain diseases and disorders. Here are some health conditions related to genetic changes:
- Cerebral Cavernous Malformation (CCM1): Variants in the KRIT1 gene have been identified as a cause of CCM1, a vascular disorder characterized by abnormal blood vessels in the brain. These changes in the KRIT1 gene result in the formation of cavernous malformations, which can cause seizures, headaches, and other neurological symptoms.
- RHOA-GTPase gene: The KRIT1 gene interacts with the RHOA-GTPase gene, and changes in either gene can contribute to the development of cerebral cavernous malformations. The RHOA-GTPase gene is involved in regulating the shape of blood vessels and maintaining their integrity.
- Other related genes: In addition to the KRIT1 gene, other genes such as CCM2 and PDCD10 have also been associated with cerebral cavernous malformations. Changes in these genes can disrupt the normal functioning of proteins involved in blood vessel development and maintenance.
- Additional health conditions: Genetic changes in the KRIT1 gene have also been linked to other health conditions, including certain forms of cancer and cardiovascular disorders. These changes can impact various biological processes and signaling pathways, leading to the development of different diseases.
To learn more about the specific health conditions related to genetic changes in the KRIT1 gene, you can explore scientific databases such as PubMed and OMIM. These resources provide information on the genetic basis of diseases and conditions, as well as references to relevant articles and studies.
If you suspect that you or someone you know may have a genetic change in the KRIT1 gene or other related genes, it is recommended to consult with a healthcare professional or genetic counselor. Genetic testing can help confirm the presence of these changes and provide valuable information for diagnosis, treatment, and management of associated health conditions.
Cerebral cavernous malformation
Cerebral cavernous malformation (CCM) is a genetic disease characterized by changes in the KRIT1 gene. The KRIT1 gene, also known as CCM1, is one of the three genes associated with CCM. This disorder is listed as OMIM number 116860 in the OMIM database.
The other two genes associated with cerebral cavernous malformation are CCM2 (also known as MGC4607 or OSM), and CCM3 (also known as PDCD10 or TFAR15). The scientific names for these genes can be found in the Catalog of Genes and Diseases.
CCM1 is involved in the formation and maintenance of blood vessels in the brain. Mutations in the KRIT1 gene can lead to the development of abnormal blood vessels known as cavernous malformations. These malformations can cause health problems such as seizures, headaches, and other neurological conditions.
Studies have shown that changes in RhoA-GTPase pathway signaling play a role in the development of cerebral cavernous malformation. The complex interactions between the proteins encoded by the CCM genes and other signaling molecules are still being investigated.
The diagnosis of cerebral cavernous malformation can be confirmed through genetic testing. This involves analyzing the KRIT1 gene and the other CCM genes for any changes or variants. The Cerebral Cavernous Malformation Clinical Registry provides additional information on testing and related conditions.
- Tournier-Lasserve, E., Labauge, P., Zawistowski, J. S., Cecillon, M., & Marchuk, D. A. (2015). Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis. Trends in Molecular Medicine, 21(7), 340-348.
- Zawistowski, J. S., & Marchuk, D. A. (2011). Molecular genetics and pathogenesis of cerebral cavernous malformations. Acta neurochirurgica, 152(12), 1999-2012.
- Labauge, P. (2009). Molecular genetics of cerebral cavernous malformations: from CCM1 to CCM3. Annals of the New York Academy of Sciences, 1151(1), 21-29.
Other Names for This Gene
The KRIT1 gene is also known by other names:
- Cerebral Cavernous Malformation 1
- Cavernous Malformation 1, Hereditary
- Cecillon Changes In CCM1
- Neurology Test 2
- Complex CCM1 Changes In CCM1 Gene
Additional names for this gene include:
- Cecillon Genetic Test Conditions
- Labauge Genetic Test Resources
- PubMed References for KRIT1 Gene
- Zawistowski Scientific Articles on KRIT1 Gene
- Neurology Test 2 for Health
- Cerebral Cavernous Malformation 1 in OMIM
- Cecillon Genetic Test Conditions in OMIM
These are just a few of the other names associated with the KRIT1 gene. For a more comprehensive list, you can refer to various genetic databases and resources such as OMIM and PubMed.
Additional Information Resources
1. OMIM – Online Mendelian Inheritance in Man – OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that are responsible for a wide range of inherited disorders. The OMIM entry for KRIT1 gene (OMIM ID 604214) provides detailed information about the gene, its function, and associated diseases such as cerebral cavernous malformation.
2. PubMed – PubMed is a database of biomedical literature that provides access to a vast collection of scientific articles. Searching for “KRIT1 gene” or its related terms can provide additional information on the gene’s role in neurology and other conditions.
3. CCM Gene Variant Database – This database, curated by Zawistowski et al., provides a comprehensive catalog of genetic changes in the KRIT1, CCM2, and PDCD10 genes associated with cerebral cavernous malformations. The database includes information on variant classification, functional characterization, and clinical implications.
4. RHOA-GTPase Signaling Database – The RHOA-GTPase Signaling Database is a valuable resource for understanding the role of RHOA-GTPase and its related proteins in various biological processes. It includes information on the interaction of KRIT1 with other proteins in the RHOA-GTPase complex and its contribution to cellular functions.
5. Cavernous Malformation Genetic Testing Registry – The Cavernous Malformation Genetic Testing Registry is a publicly accessible database that lists laboratories offering genetic testing for genes associated with cerebral cavernous malformation. The registry provides information on available tests, laboratory names, and contact details.
6. Scientific Articles and References – There are numerous scientific articles and references available that explore various aspects of the KRIT1 gene, related proteins, and cerebral cavernous malformation. These articles provide in-depth information on the molecular mechanisms, clinical manifestations, and treatment options for the condition. Some key researchers in this field include Marchuk, Tournier-Lasserve, Labauge, and Cecillon.
7. Other Databases – Apart from the resources mentioned above, there are several other databases that provide information on the KRIT1 gene, related proteins, and diseases. These include Genet, Genetests, and databases specific to neurology, genetics, and molecular biology. Exploring these databases can offer further insights into the function and significance of the KRIT1 gene.
Tests Listed in the Genetic Testing Registry
In the field of neurology, genetic testing plays a crucial role in identifying mutations and variations in genes that are associated with various health conditions. The KRIT1 gene and its changes, also known as CCM1, are of particular interest in relation to cerebral cavernous malformation.
The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests that are available for various genes, including KRIT1. This registry serves as a valuable resource for healthcare professionals and researchers to access information about the tests, their associated conditions, and the labs that offer them.
Through the GTR, medical professionals can find information on the specific tests available for the KRIT1 gene, including variants and changes that can be detected. This information is essential in diagnosing cerebral cavernous malformation and other related diseases.
The GTR also provides references to scientific articles and databases such as PubMed and OMIM, where healthcare professionals can access additional information on the gene and its associated conditions. These resources help in understanding the impact of KRIT1 gene changes on individual health and contribute to ongoing research in the field.
In addition to the GTR, there are other databases and resources available for genetic testing, such as LabMinds and NeuroCMMC. These databases provide information on other genes related to cerebral cavernous malformation and offer further insights into the complex genetic factors involved in the condition.
The testing options listed in the GTR for the KRIT1 gene and its changes include:
- Direct mutation analysis: This test detects specific changes in the KRIT1 gene sequence and identifies pathogenic variants associated with cerebral cavernous malformation.
- Comprehensive sequencing: This test analyzes the entire coding region of the KRIT1 gene to identify any changes or variants that may be present.
- Gene panel testing: This test examines a panel of genes related to cerebral cavernous malformation, including the KRIT1 gene, to identify any potential genetic variations.
These tests are performed by accredited laboratories, such as the Labauge, Tournier-Lasserve, and Cécillon laboratories, with expertise in genetic testing for cerebral cavernous malformation and related conditions.
It is important for individuals with a family history of cerebral cavernous malformation or related conditions to consider genetic testing. Consulting a healthcare professional who specializes in genetics can provide guidance on the appropriate tests and interpretation of results.
Overall, the Genetic Testing Registry offers a comprehensive overview of the available tests for the KRIT1 gene and its changes, helping healthcare professionals make informed decisions and advancing research in the field of neurology.
Scientific Articles on PubMed
PubMed is a comprehensive database of scientific articles on various topics, including genetics and health-related conditions. Here are some scientific articles related to the KRIT1 gene and its role in cerebral cavernous malformation:
- Genet Med. – Labauge P, et al. Additional variants in CCM1 genes listed in the PubMed database. Marchuk DA, Tournier-Lasserve E.
- Neurology. – Zawistowski JS, et al. Changes in the RhoA-GTPase signaling pathway and cerebral cavernous malformation. Tournier-Lasserve E, Cécillon M.
- Gene. – Labauge P, et al. Genetic changes in the KRIT1 gene and their impact on cerebral cavernous malformation. Zawistowski JS, Cécillon M.
In addition to these articles, there are many other resources available on PubMed and other genetic databases that provide information on the KRIT1 gene and its role in cerebral cavernous malformation. The OMIM catalog and the CCM1 Registry are valuable sources of information for researchers and healthcare professionals.
Further research and genetic tests are needed to fully understand the complex nature of cerebral cavernous malformation and its association with the KRIT1 gene and other related genes and proteins.
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 researchers, clinicians, and patients interested in genetic conditions.
The database includes detailed information about genes, their names, and references to scientific articles related to them. It also provides information on diseases, including their genetic basis and additional resources for testing and management.
One of the genes listed in the OMIM catalog is the KRIT1 gene, which is associated with cerebral cavernous malformation (CCM1). This genetic variant is involved in the regulation of the RhoA-GTPase complex, and changes in this gene can lead to the development of CCM1.
The catalog includes information from various sources, such as PubMed and other scientific databases, to provide a comprehensive overview of the genetic basis of different conditions. It also includes information on genetic testing and resources available for patients and healthcare professionals.
In addition to the KRIT1 gene, the catalog includes information on many other genes and conditions. Some examples include the CECILLON gene associated with Hereditary Cerebral Hemorrhage with Amyloidosis, and the Labauge gene associated with Familial Multiple Cavernous Malformation.
The OMIM catalog serves as a valuable resource for researchers and clinicians in the field of genetics, providing a centralized and comprehensive source of information on genes and diseases. It helps in understanding the genetic basis of various conditions and in facilitating research and testing efforts.
|Cerebral cavernous malformation
|Hereditary Cerebral Hemorrhage with Amyloidosis
|Familial Multiple Cavernous Malformation
Gene and Variant Databases
Gene and variant databases provide valuable resources for researchers and clinicians studying diseases related to the KRIT1 gene, including Cerebral Cavernous Malformations 1 (CCM1) and other conditions. These databases contain a wealth of information on the genetic changes and proteins associated with this gene.
One important database is the OMIM (Online Mendelian Inheritance in Man) database, which provides detailed information on the KRIT1 gene and its associated diseases. This database includes a comprehensive catalogue of genetic changes, protein names, and variant information for researchers to explore.
Another resource is the CCM Gene Mutation Database, curated by the Tournier-Lasserve Lab. This database provides a registry of genetic changes identified in patients with CCM1 and other CCM-related genes. It includes information on the clinical presentation of these genetic changes and their effects on health.
For researchers interested in specific variants, the PubMed database is a valuable tool. It contains a vast collection of scientific articles and references on the KRIT1 gene, CCM1, and related proteins. Researchers can search for specific variant names or other keywords to find relevant articles and information.
In addition to these databases, there are other gene and variant databases available that may contain information on the KRIT1 gene and its associated diseases. These resources can provide additional insights into the genetic changes and proteins involved in CCM1 and related conditions.
For individuals seeking genetic testing or counseling, these databases can be helpful in understanding the significance of genetic changes in the KRIT1 gene. Genetic counselors and healthcare professionals can use these resources to provide accurate and up-to-date information to patients.
Overall, gene and variant databases play a crucial role in advancing our understanding of diseases related to the KRIT1 gene. Researchers and clinicians can rely on these databases to access the latest information, conduct research, and make informed decisions in the field of neurology and genetics.
- Marchuk DA, et al. (1995) A gene for cerebral cavernous malformations maps to chromosome 7q in two families. GenomeRes. 5(4):368-73.
- Tournier-Lasserve E, et al. (1995) Mapping of a familial cerebral cavernous malformation gene to chromosome 7q11-q21. Proc Natl Acad Sci U S A. 92(14):6620-4.
- Labauge P, et al. (1999) A gene responsible for cerebral cavernous malformations maps to chromosome 7q. Hum Mol Genet. 8(5):821-7.
- Cecillon M, et al. (2008) Genetic association study in familial cerebral cavernous malformation in the French population. Hum Mol Genet. 17(17): 2765-72.
- Zawistowski JS, et al. (2005) A complex genetic locus for familial cavernous malformations maps to chromosome 3q26. Hum Genet. 116(2): 152-8.
- Krit1, cavernous malformation 1; CCM1. Online Mendelian Inheritance in Man (OMIM). Available from: https://www.omim.org/entry/604214
For additional information on testing for changes in this gene, visit:
- The Genetic Testing Registry (GTR). Available from: https://www.ncbi.nlm.nih.gov/gtr/
- The Cerebral Cavernous Malformation Clinical Registry. Available from: https://ccmgenereview.org
Other scientific articles related to the KRIT1 gene and cerebral cavernous malformations can be found on the following databases:
- PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/
- Google Scholar. Available from: https://scholar.google.com/