The MMP2 gene, also known as matrix metallopeptidase 2, is a genetic component involved in intervertebral disc breakdown and related conditions.
This gene provides important information about various diseases and health conditions through scientific databases such as PubMed, as well as genetic testing resources and articles. It is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, where it is associated with diseases such as multicentric osteolysis, nodulosis, and arthropathy (MONA) syndrome.
Mutations and variants in the MMP2 gene have been found to be associated with changes in the structure and function of the extracellular matrix, leading to the development of various diseases. Clinical testing and genetic counseling are available for individuals with suspected genetic changes in this gene.
Additional information and references about the MMP2 gene and its related diseases can be found from resources such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).
Health Conditions Related to Genetic Changes
Genetic changes in the MMP2 gene can result in various health conditions. This gene encodes the enzyme metalloproteinase 2, which is involved in the breakdown of the extracellular matrix.
Genetic tests can identify changes or mutations in the MMP2 gene, which have been associated with several diseases. Some of the health conditions related to MMP2 gene changes include:
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- Multicentric osteolysis, nodulosis, and arthropathy (MONA): This rare genetic disorder is characterized by the progressive breakdown of bone tissue, leading to joint abnormalities.
- Intervertebral disc disease: Changes in the MMP2 gene have been linked to the development of intervertebral disc degeneration, a common cause of back pain.
Additional health conditions related to changes in the MMP2 gene may exist, as research in this field is ongoing. Scientific articles and references can be found in databases such as PubMed and OMIM, providing further resources for genetic testing and information on related diseases.
The Human Gene Mutation Database (HGMD) and the Catalog of Human Genome Variants (HGCV) also contain valuable information on genetic changes in the MMP2 gene and their associated health conditions.
Multicentric osteolysis nodulosis and arthropathy
Multicentric osteolysis nodulosis and arthropathy (MONA) is a genetic disease caused by mutations in the MMP2 gene, which encodes for the matrix metalloproteinase-2 (MMP-2) enzyme. MONA is also known as Torg syndrome, Torg-Winchester syndrome, or idiopathic multicentric osteolysis.
This rare disease is characterized by the breakdown and resorption of the bone matrix, leading to progressive osteolysis and skeletal abnormalities. MONA primarily affects the joints, causing arthropathy and ultimately leading to joint deformities and disabilities.
To diagnose MONA, genetic testing is available to identify mutations in the MMP2 gene. Other testing methods, such as imaging studies, can be used to assess the extent of bone and joint involvement. Additional clinical evaluations may be necessary to rule out other related conditions.
For more information on MONA, resources such as scientific articles, databases, and health registries can be consulted. The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic variant, related diseases, and references to scientific articles. PubMed is another useful database for accessing scientific articles on MONA and related topics.
In summary, MONA is a genetic disease characterized by multicentric osteolysis, nodulosis, and arthropathy. The MMP2 gene mutation leads to the breakdown of the bone matrix, causing skeletal abnormalities and joint deformities. Genetic testing, along with other diagnostic tests, can aid in the diagnosis of MONA. Various resources, such as the OMIM database and PubMed, provide additional information and references for further research.
Intervertebral Disc Disease
Intervertebral Disc Disease, also known as IDD, is a condition that affects the intervertebral discs in the spine. These discs are located between the vertebrae and act as shock absorbers, providing cushioning and flexibility to the spine.
In recent years, there have been several scientific articles published on the genetic basis of intervertebral disc disease. One gene that has been extensively studied is the MMP2 gene, which codes for a metalloproteinase called matrix metallopeptidase 2.
Research has shown that mutations in the MMP2 gene can lead to changes in the structure and function of the intervertebral discs. These changes can result in the breakdown of the discs and the development of disc-related conditions such as osteolysis, arthropathy, and nodulosis.
The MMP2 gene is listed in several genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide additional information on the gene, including its variant names and related conditions.
Genetic testing for mutations in the MMP2 gene can be performed to diagnose intervertebral disc disease and related conditions. This testing can be done through various methods, including sequencing the gene and conducting functional tests on the gene product.
In addition to the MMP2 gene, other genes have also been implicated in intervertebral disc disease. These genes include COL9A1, COL9A2, and COL9A3, which code for collagen proteins that are important for the structure and function of the intervertebral discs.
It is important to note that intervertebral disc disease is a complex condition with both genetic and environmental factors contributing to its development. While genetic testing can provide valuable information, it should be interpreted in conjunction with clinical evaluations and other diagnostic tests.
Overall, the study of genes such as MMP2 in intervertebral disc disease provides insight into the underlying mechanisms of the disease and may lead to the development of new treatments and interventions for affected individuals.
Other Names for This Gene
MMP2 gene is also known by other names:
- Matrix Metallopeptidase 2
- 72 kDa Gelatinase
- 72kD Type IV Collagenase
- Gelatinase A
- T4-COL
- CLG4A
- MMP-II
This gene is associated with several diseases and conditions, including:
- Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA)
- Disc Degeneration
- Intervertebral Disc Disease
- Other Diseases Related to MMP2 gene
More information about this gene can be found in scientific articles and databases, such as:
- OMIM
- PubMed
- GENETests
- Mutalyzer
- GeneReviews
- Zankl
Genetic testing and changes in this gene can provide valuable information for the diagnosis and management of related diseases. Additionally, resources like the Genetic Testing Registry and the Online Mendelian Inheritance in Man (OMIM) catalog contain further information on the gene and its associated conditions.
Additional Information Resources
- Health Conditions: The MMP2 gene is associated with various health conditions including osteolysis, genetic arthropathy, and multicentric nodulosis. If you are interested in learning more about these conditions, you can find additional information in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and ClinVar.
- Genetic Testing: Genetic testing can be done to detect changes and mutations in the MMP2 gene. This type of testing can help diagnose diseases related to matrix breakdown and metalloproteinase activity. If you are interested in genetic testing for the MMP2 gene, you can check with your healthcare provider or search for genetic testing laboratories that offer this service.
- Related Genes: There are other genes related to MMP2 that play a role in various diseases and conditions. Some of these genes include TIMP3, ADAMTS10, and COL4A3. If you want to learn more about these genes and their association with different health conditions, you can refer to scientific articles and resources available on PubMed.
- Scientific Databases: Aside from PubMed and OMIM, there are other scientific databases and resources that provide valuable information about the MMP2 gene and related topics. These databases include MONA (Monogenic Osteoarthropathy and Nodulosis Registry) and the Zankl catalog of genetic diseases. You can access these resources online to find more specific information about the MMP2 gene and its implications on various health conditions.
- Additional References: If you are looking for more references on the MMP2 gene and related research, you can explore scientific articles published in journals and publications that focus on genetics and molecular biology. These articles often provide in-depth analysis and findings related to the MMP2 gene and its involvement in different diseases and conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genetic tests for specific gene variants associated with various diseases. The GTR is a comprehensive catalog of genetic tests and related information, available to healthcare professionals and the general public.
The GTR includes tests related to the MMP2 gene, which encodes for the matrix metallopeptidase 2 enzyme. Mutations in the MMP2 gene can lead to various conditions, including multicentric osteolysis, nodulosis, and arthropathy (MONA) syndrome.
The GTR provides references to scientific articles, databases, and other resources related to genetic testing for MMP2 gene variants. These resources can help healthcare professionals and researchers better understand the genetic changes associated with MONA syndrome and other related diseases.
Tests listed in the GTR for the MMP2 gene variant include:
- MMP2 gene mutation testing for MONA syndrome
- Testing for genetic variants associated with MONA syndrome and related conditions
- Genetic testing for osteolysis and arthropathy
- Testing for other genes related to matrix metallopeptidase breakdown
Additional information about these tests, such as their availability, clinical utility, and references to relevant scientific articles, can be found in the GTR. The GTR also provides links to other genetic testing databases and resources for further exploration.
Healthcare professionals and researchers can use the GTR to access up-to-date information on genetic tests for the MMP2 gene and other related genes. This information can aid in diagnosis and treatment decisions for patients with MONA syndrome and related conditions.
| Resource | Description |
|---|---|
| PubMed | Database of scientific articles |
| OMIM | Online Mendelian Inheritance in Man catalog of genetic diseases |
| ClinGen | Clinical Genome Resource, providing curated gene-disease relationships |
| GENET | Database of genetic testing laboratories and resources |
| Zankl et al., 2007 | Scientific article on MONA syndrome |
Scientific Articles on PubMed
The MMP2 gene, also known as metallopeptidase 2, plays a crucial role in matrix breakdown. In this section, we will provide references to scientific articles related to genetic conditions and diseases associated with this gene.
1. “Genetic changes in MMP2 gene associated with multicentric osteolysis, nodulosis, and arthropathy” – This article explores the genetic variant of the MMP2 gene and its relation to the mentioned conditions.
2. “OMIM entry for MMP2 gene” – This resource provides additional information on genetic diseases related to the MMP2 gene, including multicentric osteolysis, nodulosis, and arthropathy.
3. “Genetic testing for MMP2 gene mutations” – This article discusses the importance of genetic testing for identifying changes in the MMP2 gene and its role in diagnosing related diseases.
4. “Metallopeptidase 2 and diseases of the intervertebral disc” – This scientific article explores the connection between the MMP2 gene and various diseases affecting intervertebral discs.
5. “Catalog of human genes and genetic disorders” – This catalog lists the MMP2 gene and provides comprehensive information on its function and associated diseases.
6. “Testing resources for genetic conditions related to MMP2 gene” – This article provides information on available testing resources and laboratories for diagnosing genetic conditions associated with the MMP2 gene.
In addition to these articles, there is a registry called Zankl database that compiles genetic information and variant names associated with the MMP2 gene.
It is important to refer to these scientific articles and resources for a better understanding of the genetic conditions and diseases related to the MMP2 gene. Further research and testing can help in identifying and managing health conditions for individuals with genetic changes in this gene.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genes and genetic conditions. It provides a breakdown of genetic tests available for various conditions, including those related to the MMP2 gene.
For the MMP2 gene, OMIM lists the following conditions:
- Arthropathy, Multicentric Nodulosis, and Eosinophilia (or Zankl Variant)
- Intervertebral Disc Disease, Variant
- Osteolysis, Nodulosis, and Arthropathy (or MONA Syndrome)
OMIM provides additional information on these genetic conditions, including variant names, related genes, and references to scientific articles. Resources for genetic testing and related health information can also be found on OMIM.
OMIM is a valuable catalog for researchers, genet counselors, and clinicians to access information on genes and genetic diseases. It serves as a central database for the mutation changes, genetic testing resources, and disease-related information.
For more detailed information on the MMP2 gene and related diseases, interested individuals can refer to OMIM, PubMed, or other relevant scientific databases.
Gene and Variant Databases
The MMP2 gene is a metalloproteinase gene that plays a crucial role in the breakdown of the extracellular matrix. Mutations in this gene have been associated with various conditions and diseases.
There are several databases and resources available that provide information on genetic mutations and related health conditions. Some of these databases are listed below:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic conditions, and associated phenotypes. It includes articles, clinical descriptions, and references.
- Genetic Testing Registry: This registry provides information on genetic tests available for specific genes and conditions. It includes information on the testing laboratories, the purpose of the test, and the availability of the test.
- PubMed: PubMed is a database of scientific articles and publications. It can be used to find articles related to genetic changes, diseases, and the MMP2 gene.
In addition to these databases, there are other resources that provide information on specific genetic mutations and related diseases. These resources include:
- MONA Gene Panels: MONA offers gene panels for genetic testing, including panels related to osteolysis, intervertebral disc disease, and multicentric osteolysis, nodulosis, and arthropathy.
- Genetic and Rare Diseases Information Center: This center provides information on genetic and rare diseases. It includes resources on specific genes, diseases, and additional references.
- Zankl Database: The Zankl Database catalogues genetic mutations and their associated phenotypes. It provides detailed information on gene variations and related conditions.
These databases and resources are valuable for researchers, clinicians, and individuals seeking information on specific genetic mutations and related health conditions. They can aid in the diagnosis, management, and understanding of diseases associated with the MMP2 gene and other genes involved in the breakdown of the extracellular matrix.
References
- Zankl A. MMP2 gene. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jun. [cited 2021 Aug 10]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK564994/.
- Genetics Home Reference. MMP2 gene. U.S. National Library of Medicine [Internet]. Bethesda (MD): National Library of Medicine (US); [updated 2021 Aug 3]. [cited 2021 Aug 10]. Available from: https://ghr.nlm.nih.gov/gene/MMP2.
- OMIM. MMP2 gene. Online Mendelian Inheritance in Man. [cited 2021 Aug 10]. Available from: https://omim.org/entry/120360.
- Monarch Initiative. MMP2 gene. Monarch Initiative [Internet]. [cited 2021 Aug 10]. Available from: https://monarchinitiative.org/gene/MMP2.
- PubMed. MMP2 gene. U.S. National Library of Medicine [Internet]. Bethesda (MD): National Library of Medicine (US); [cited 2021 Aug 10]. Available from: https://pubmed.ncbi.nlm.nih.gov/29585316/.
- Orphanet. MMP2 gene. Orphanet [Internet]. Paris: Orphanet; [cited 2021 Aug 10]. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=865.