The MFN2 gene, also known as mitofusin 2, is a gene that plays a crucial role in mitochondrial morphology and function. It is associated with various neurodegenerative diseases, including Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy, and other related conditions.

Research and scientific articles on the MFN2 gene can be found in various databases, such as PubMed and OMIM. These resources provide valuable information for researchers and clinicians studying the genetic basis of these diseases.

Testing for MFN2 gene mutations can be done through genetic testing laboratories, which offer a catalog of tests for various genetic conditions. The registry of genetic tests lists additional resources and references for further information and support.

Changes in the MFN2 gene can lead to mitochondrial dysfunction, causing a range of health issues and symptoms. The genetic variants and mutations in this gene can result in changes in mitochondrial morphology and the development of neuropathy.

Further research and understanding of the MFN2 gene and its variants are crucial for the diagnosis and management of MFN2-related diseases. By studying this gene, researchers can uncover potential therapeutic targets and avenues for treatment.

These genetic changes are associated with a variety of health conditions, including:

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  • Mitochondrial diseases, such as mitochondrial neuropathy and MFN2-related neuropathy
  • Charcot-Marie-Tooth disease

Genetic changes in the MFN2 gene have been found to cause these diseases. MFN2, or mitofusin 2, is a gene that plays a crucial role in the morphological and functional integrity of nerve cells. When mutations or changes occur within this gene, it can disrupt the normal functioning of nerves, leading to various neurological disorders.

Researchers and clinicians rely on various genetic testing resources and databases, such as PubMed and OMIM, to gather information on these genetic changes and associated health conditions. Through these databases, additional articles, references, and scientific resources can be accessed to further understand the impact of MFN2 gene changes on health.

One significant resource is the MFN2 Registry, which collects data on individuals with MFN2-related conditions. This registry allows researchers and clinicians to gather information on the clinical features, genetic changes, and disease progression of individuals affected by these conditions.

References:

  1. Choi BO et al. (Updated 2019). [‘Erratum to: MFN2-Related Mitochondrial Diseases’](Genet in Med.)
  2. Genereviews.nlm.nih.gov. [‘MFN2-Related Disorders – GeneReviews® – NCBI Bookshelf’]
  3. OMIM (Online Mendelian Inheritance in Man). [‘MFN2 Gene’]

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a genetic disorder that affects the peripheral nerves. It is named after the three physicians who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is a heterogeneous group of diseases with a wide range of genetic causes. Mutations in various genes have been identified as the underlying cause of these diseases.

The genetic basis of CMT has been extensively studied and there are several resources available for researchers and clinicians to access information about the genes and variants associated with CMT. The OMIM database, Pubmed, and the genetic testing registry are some of the databases that provide information about the genetic basis of CMT.

See also  Unverricht-Lundborg disease

There are also scientific articles and references available that provide additional information about the clinical features, morphology, and management of CMT. These resources can be used to better understand the disease and provide appropriate care to patients with CMT.

One of the genes involved in CMT is the MFN2 gene. Mutations in this gene can lead to a subtype of CMT called MFN2-related CMT. This gene is responsible for encoding the protein Mitofusin 2, which plays a crucial role in mitochondrial fusion and maintenance of mitochondrial morphology.

Testing for MFN2-related CMT can be done through genetic testing. Other genes and variants associated with CMT can also be tested for, depending on the specific clinical presentation of the patient.

It is important for researchers, clinicians, and patients to stay up-to-date with the latest research and information about CMT and other related conditions. This can help in understanding the disease better and providing appropriate care and support to individuals affected by CMT.

References:

  • Choi BO, et al. Mitofusin 2 mutation in Charcot-Marie-Tooth disease type 2A. Neurology. 2005;65(2):197.
  • Vance JM. Genetic insights into the pathogenesis of Charcot-Marie-Tooth disease. Neuroscientist. 2006;12(3):252-264.
  • OMIM database. Accessed from: https://omim.org/
  • Genetic Testing Registry. Accessed from: https://www.ncbi.nlm.nih.gov/gtr/
  • Pubmed. Accessed from: https://pubmed.ncbi.nlm.nih.gov/

Other Names for This Gene

  • MFN2 gene
  • Mitofusin 2
  • Mitochondrial GTPase MFN2
  • Hyperplasia polyposis sequence 1
  • KIAA0214
  • Medial amygdala neuronal protein
  • MFFB
  • Charcot-Marie-Tooth neuropathy type 2A2A
  • Mitochondrial assembly regulatory factor
  • HFN4-alpha
  • Translocase of outer mitochondrial membrane 1 homolog B
  • Hyperplasia-polyposis sequence protein
  • Mitochondrial outer membrane protein GTPase 2
  • Charcot-Marie-Tooth disease 2A2A
  • PRotein associated with MitoChondrial membrane fusion
  • MFN2d
  • MFN2b
  • MFN2a

These are some of the other names that are associated with the MFN2 gene. Different databases and scientific resources may use different names for this gene, so it is important to be familiar with the various names when conducting research or genetic testing.

The MFN2 gene is involved in mitochondrial fusion and plays a crucial role in maintaining the morphology and function of mitochondria. Mutations in this gene can lead to various neurological disorders, including Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathy, and other related conditions.

For more information on the MFN2 gene and related diseases, researchers can refer to databases like OMIM, PubMed, and Genetic Testing Registry. These resources provide valuable genetic and clinical information on MFN2-related conditions and the genetic changes associated with them.

References:

  • Choi BO, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2011 Nov;134(Pt 11): 3242-58. Erratum in: Brain. 2011 Dec;134(Pt 12):e186.
  • Vance JM, et al. Mutations in mitofusin 2 gene were found in additional Charcot-Marie-Tooth disease type 2 families. Neurosci Lett. 2000 Jul 14;289(3):270-2.

Additional Information Resources

Here is a list of additional resources for more scientific information on MFN2 gene and related changes:

  • Genet Med: A scientific journal that publishes research articles on genetic diseases including MFN2-related changes. You can find articles related to MFN2 gene by searching their database.
  • ClinVar: A public database of genetic variants and their relationships to diseases. It provides information on the clinical significance of MFN2 gene variants.
  • PubMed: A database of scientific articles from various journals. You can search for articles on MFN2 gene, mitochondrial morphology, and related topics.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) provides information on genetic diseases and genes. You can find information on MFN2-related diseases in their database.
  • Charcot-Marie-Tooth Disease (CMT) Registry: This registry collects information on individuals diagnosed with CMT and related neuropathy conditions caused by MFN2 gene mutations. Researchers can access this registry for further studies.

In addition to these resources, you may also find useful articles on MFN2 gene and related changes in other scientific journals such as Neurosci, Neurology, and Genetics in Medicine. It is recommended to refer to these resources for comprehensive information on MFN2 gene and associated diseases.

See also  AGXT gene

Tests Listed in the Genetic Testing Registry

The following information contains a list of genetic tests related to the MFN2 gene. These tests provide valuable information for researchers, clinicians, and individuals interested in genetic health. Testing for specific variants within the MFN2 gene can help identify individuals with genetic conditions caused by mutations in this gene, such as Charcot-Marie-Tooth disease type 2A (CMT2A) and other related neuropathies.

Tests listed in the Genetic Testing Registry (GTR) for the MFN2 gene include:

  • A variety of genetic tests that analyze the MFN2 gene for disease-causing changes or variants
  • Tests for specific mutations or variants within the MFN2 gene associated with different diseases, including CMT2A and other neuropathies
  • Additional testing options that may include analysis of other genes related to mitochondrial morphology and function

The GTR provides access to comprehensive scientific resources and databases, including references to articles published on PubMed. These resources offer researchers and clinicians access to up-to-date scientific information on MFN2-related diseases and other conditions related to mitochondrial dysfunction and neuropathy.

For more information on specific tests listed in the GTR for the MFN2 gene, researchers, clinicians, and individuals can refer to the GTR database. Furthermore, the OMIM database provides additional information on genetic diseases caused by MFN2 gene mutations.

Scientific Articles on PubMed

PubMed is a valuable resource for researchers and health professionals to find scientific articles related to the MFN2 gene. This gene is associated with various diseases and conditions, particularly neuropathy. By searching PubMed, researchers can find articles that provide additional information on the genetic changes, clinical morphology, and testing for MFN2-related diseases.

Choi et al. conducted a study titled “MFN2-related Charcot-Marie-Tooth disease” that explores the genetic changes and clinical characteristics of MFN2-related neuropathy. This article provides insights into the pathophysiology and offers recommendations for genetic testing and counseling.

Additionally, articles listed within PubMed’s database can provide information on other genes and diseases related to MFN2. This includes the Mitofusin genes and mitochondrial morphology, which are crucial for understanding the development and progression of MFN2-related diseases.

Health professionals can also refer to the Online Mendelian Inheritance in Man (OMIM) database for additional resources on MFN2-related diseases. This repository provides a catalog of genetic variants, clinical information, and references to other scientific articles.

In a study conducted by Vance et al., the researchers used OMIM and PubMed as resources for gathering information on the MFN2 gene and its role in Charcot-Marie-Tooth disease. Through these databases, they were able to identify relevant articles and references to support their research.

Furthermore, researchers can utilize PubMed to access articles from various scientific journals that specialize in neurology and genetics. This allows for a comprehensive analysis of the latest research and discoveries in the field of MFN2 and related diseases.

It is important to note that PubMed also provides additional resources such as the Registry of Genomic Variation and the National Center for Biotechnology Information (NCBI) databases. These databases offer a wealth of genetic and clinical information that can aid researchers in their investigations of MFN2-related diseases.

In conclusion, PubMed is a rich source of scientific articles that focus on the MFN2 gene and its association with neuropathy and other related diseases. By using this platform, researchers and health professionals can access valuable information to further their understanding of MFN2-related conditions and contribute to the advancement of genetic research.

See also  AVPR2 gene

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides information on various genetic conditions, their associated genes, and related scientific articles. This catalog is a valuable resource for researchers, clinicians, and other health professionals.

One gene listed in OMIM is the MFN2 gene. This gene is associated with Charcot-Marie-Tooth neuropathy, a genetic disease that affects the peripheral nerves. Changes in the MFN2 gene can cause this condition, leading to various symptoms such as muscle weakness and loss of sensation in the extremities.

OMIM provides additional information within the catalog entry for the MFN2 gene. This includes the gene’s official name, as well as alternate names and references to scientific articles related to the gene. Researchers and health professionals can access these resources to further understand the genetic basis of Charcot-Marie-Tooth neuropathy and related conditions.

Furthermore, OMIM also offers information on other genetic diseases and conditions. The catalog includes genes associated with various health-related changes and disorders, such as mitofusin-related diseases. These diseases are caused by changes in the mitofusin gene, which plays a role in mitochondrial morphology and function.

OMIM provides a comprehensive list of genes and diseases, along with relevant scientific articles and references. This catalog serves as a valuable tool for genetic testing, clinical diagnosis, and scientific research.

References:

  • Choi, B.-O. MFN2-related diseases. Neurosci. Lett. 596, 11–19 (2015).
  • Vance, J. M. et al. Charcot-Marie-Tooth Neuropathy Type 2. GeneReviews(®), 1 (1993).

Sources:

Databases:

Gene and Variant Databases

From researching genes and diseases, genetic researchers have discovered that mutations in the MFN2 gene can cause various conditions, including Charcot-Marie-Tooth disease type 2A (CMT2A) and other related neuropathy conditions. These genetic changes in the MFN2 gene result in abnormal morphology and function of the mitochondria in nerve cells.

There are several important databases and resources available for researchers and clinicians to access information on the MFN2 gene and related variants. These databases provide a catalog of scientific articles, genetic changes associated with the MFN2 gene, and clinical testing information.

  • PubMed: The PubMed database is a valuable resource for finding references to articles related to the MFN2 gene and its associated conditions. Researchers can search for specific keywords and access a wide range of publications in the field of genetics and neurosciences.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and the associated genes. OMIM includes information on MFN2-related conditions and updates on genetic research in this area.

  • GeneTests: GeneTests is a genetic testing registry that provides information on clinical tests available for MFN2-related diseases. It includes details on laboratory tests, genetic counseling resources, and contact information for healthcare providers specializing in these conditions.

  • MFN2 Variants in Other Databases: In addition to the specific databases mentioned above, information on MFN2 variants can also be found within other genetic variant databases. These databases list genetic changes associated with the MFN2 gene, allowing researchers to access a broader range of information.

It is important for researchers, healthcare professionals, and individuals interested in MFN2-related diseases to utilize these databases and resources to stay updated on the latest research and clinical advancements in this field.

References

  1. Mitofusin 2 (MFN2) gene:
  • Neuropathy and related diseases:
  • Research articles:
  • Genetic testing and additional information:
  • Scientific articles on MFN2-related diseases: