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MPV17-related hepatocerebral mitochondrial DNA (mtDNA) depletion syndrome is a rare condition that affects the neurological and hepatic systems. It is named after the gene, MPV17, which is mutated within affected individuals. This condition often leads to severe liver damage and neurological impairments, resulting in neurohepatopathy.

The frequency of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is not well established, but it is considered a rare condition. Additional information about the inheritance and causes of this condition can be found in scientific articles and references, such as those available on PubMed and other genetic databases.

Testing for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome can be done through various genetic tests aimed at identifying mutations within the MPV17 gene or other related genes involved in mtDNA maintenance. This testing can provide crucial information for the diagnosis and support of affected patients.

More research and advocacy efforts are needed to learn more about MPV17-related hepatocerebral mitochondrial DNA depletion syndrome and other similar conditions. Resources such as the Mitochondrial Disease Registry and the Center for Mitochondrial and Rare Diseases can provide further support and information about this condition.

References:

– Craigen, W. J. & Navajo Consortium Deficiency. MPV17-related hepatocerebral mitochondria DNA depletion syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

– Genes and Diseases [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2016-. MPV17. Available from: https://www.ncbi.nlm.nih.gov/gene/4358.

Frequency

The MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is a rare neurohepatopathy with a frequency of only a few reported cases. The exact frequency of this condition is currently unknown.

The condition is caused by mutations in the MPV17 gene, which is responsible for the maintenance of mitochondrial DNA (mtDNA). Mutations in this gene lead to a depletion of mtDNA and subsequent dysfunction of the mitochondria.

According to scientific resources such as OMIM and PubMed, the MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is a rare genetic condition. There are limited cases reported in the literature, and more research is needed to fully understand the frequency of this condition.

Genetic testing can be done to confirm the diagnosis of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. Additional information on this condition, including resources for support and advocacy, can be found through organizations such as the Navajo Neurohepatopathy Advocacy and Research Center.

More articles and references on MPV17-related hepatocerebral mitochondrial DNA depletion syndrome can be found on PubMed. These resources provide more in-depth information on the frequency, genetics, and neurological symptoms associated with this condition.

Overall, due to the rarity of the MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, it is important for medical professionals and researchers to learn more about this condition and work together to provide better support and treatment options for patients.

Causes

The causes of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome are associated with mutations in the MPV17 gene. This gene is responsible for the maintenance of mitochondrial DNA (mtDNA) and its mutations result in a rare condition characterized by neurohepatopathy.

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome has been described in scientific articles and can be found in resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center. To learn more about this condition, one can refer to these resources for additional information, references, and support.

The frequency of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is relatively rare. It is primarily found in individuals of Navajo ancestry, although cases in other populations have also been reported.

Diagnostic testing for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome can be done through genetic testing that examines the MPV17 gene. This testing can quickly identify mutations in the gene and aid in the diagnosis of the condition.

It is important to note that MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is a neurological and hepatic condition associated with mitochondrial dysfunction. The exact mechanisms by which the mutations in the MPV17 gene lead to this condition are still being investigated.

Learn more about the gene associated with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is a rare genetic condition characterized by severe liver and neurological problems. It is caused by mutations in the MPV17 gene, which is responsible for maintaining mitochondrial DNA (mtDNA) levels in cells. The gene is cataloged as MPV17 in databases such as OMIM (Online Mendelian Inheritance in Man) and is associated with the hepatology and genetics fields.

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is inherited in an autosomal recessive manner, meaning that both copies of the MPV17 gene must be mutated for an individual to develop the condition. The syndrome has been described in patients with different ethnic backgrounds, including a higher frequency among the Navajo population.

The MPV17 gene is involved in the maintenance of mtDNA, which is essential for the proper functioning of mitochondria. Mitochondria are responsible for generating energy in cells and play a crucial role in various cellular processes. Mutations in the MPV17 gene lead to a depletion of mtDNA in hepatocytes, causing liver dysfunction and neurohepatopathy in affected individuals.

See also  MBD5-associated neurodevelopmental disorder

Scientific articles and case reports on MPV17-related hepatocerebral mitochondrial DNA depletion syndrome can be found in medical journals and databases such as PubMed. These articles provide more information about the genetic causes, clinical features, diagnostic testing, and management of the condition.

Genetic testing for MPV17 mutations can help diagnose MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. It involves analyzing the DNA sequence of the MPV17 gene to identify any disease-causing mutations. Genetic testing can be performed in specialized laboratories and genetic testing centers.

Learning more about the MPV17 gene and its association with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome can help researchers and healthcare professionals better understand the condition and develop targeted therapies. Further research on this gene and related genes involved in mitochondrial maintenance may also provide insights into other mitochondrial diseases.

  • References:

  1. Craigen, W. J., & Graham, B. H. (2016). MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. In GeneReviews® [Internet]. University of Washington, Seattle.

  2. El-Hattab, A. W., & Scaglia, F. (2013). MPV17-related mitochondrial DNA maintenance defect. In GeneReviews® [Internet]. University of Washington, Seattle.

  3. MPV17 hepatocerebral mitochondrial DNA depletion syndrome. (n.d.). Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=MPV17

Inheritance

Inheritance of MPV17-related hepatocerebral mitochondrial DNA (mtDNA) depletion syndrome is considered autosomal recessive. This means that the condition can occur when an individual inherits two copies of the mutated gene, one from each parent.

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is a rare neurological and hepatological condition that causes mitochondrial DNA depletion in the liver and brain. It is often associated with severe liver dysfunction and progressive neurological symptoms. These symptoms can include developmental delay, intellectual disability, muscle weakness, and movement disorders.

Testing for MPV17-associated mtDNA depletion syndrome typically involves genetic testing to identify mutations in the MPV17 gene. This gene is responsible for the maintenance of mtDNA levels in the mitochondria. Mutations in the MPV17 gene can lead to a decrease in mtDNA content, which in turn can cause the symptoms of the condition.

Additional resources for learning more about MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, its causes, and inheritance include scientific articles, patient advocacy and support groups, and genetic counseling services. PubMed and OMIM are valuable references for finding articles and information on this condition. The Molecular and Clinical Genetics Center and the National Organization for Rare Disorders (NORD) are also excellent resources for information on MPV17-related hepatocerebral mitochondrial DNA depletion syndrome.

In the Navajo population, MPV17-related hepatocerebral mitochondrial DNA depletion syndrome occurs with a higher frequency compared to other populations. This suggests a higher prevalence and potential founder effect within this specific population.

Other Names for This Condition

  • MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
  • MPV17-associated neurohepatopathy
  • Hepatology, neurohepatopathy MPV17-related
  • MTDNA depletion syndrome, hepatocerebral, MPV17-related
  • Neurohepatopathy, MPV17-associated
  • MPV17 hepatocerebral mitochondrial DNA depletion syndrome
  • MPV17-associated hepatocerebral neurohepatopathy
  • Neurohepatopathy, hepatocerebral MPV17-associated mitochondrial DNA depletion syndrome

These are just a few of the names used to describe MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. For more information and additional references on this condition, it is recommended to check scientific articles, databases, and resources such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center.

Additional Information Resources

Here are some additional resources for you to learn more about MPV17-related hepatocerebral mitochondrial DNA depletion syndrome:

  • Mitochondrial Disease Resource Center: This center provides information and support for individuals and families affected by mitochondrial diseases, including MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. You can find resources, articles, and patient stories on their website.
  • Mitochondrial DNA Testing: If you suspect you or someone you know may have MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, it is important to undergo genetic testing. Mitochondrial DNA testing can quickly and accurately diagnose this condition. You can find more information about mitochondrial DNA testing from your healthcare provider or through reputable genetic testing companies.
  • PubMed: PubMed is a scientific database that contains a vast collection of articles on various medical topics. Searching for “MPV17-related hepatocerebral mitochondrial DNA depletion syndrome” on PubMed will provide you with more scientific articles and research papers on this condition.
  • Mitochondrial Hepatology Research Group: This research group focuses on studying and understanding liver diseases associated with mitochondrial dysfunction, including neurohepatopathy. Their website provides information about ongoing research, patient resources, and clinical trials related to MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome.
  • Mitochondrial Disease Advocacy: There are several advocacy organizations dedicated to raising awareness, providing support, and advocating for individuals with mitochondrial diseases. These organizations can be valuable resources for information, support groups, and research updates on MPV17-related hepatocerebral mitochondrial DNA depletion syndrome.
  • Genetic Inheritance and DNA: To understand the genetic basis of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, it is important to learn about genetic inheritance and mitochondrial DNA. Online resources and books on genetics can provide more information on these topics.
  • Navajo Neurohepatopathy: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is also known as Navajo neurohepatopathy due to its higher frequency in the Navajo population. Learning more about Navajo neurohepatopathy and the associated genetic mutations can help you understand the condition better.
  • Scientific Articles: You can find more scientific articles and research papers on MPV17-related hepatocerebral mitochondrial DNA depletion syndrome in scientific journals like the American Journal of Medical Genetics and the Journal of Inherited Metabolic Disease.
  • Genetic Testing Catalog: Some genetic testing companies maintain catalogs that provide information about genetic tests available for various conditions. Checking these catalogs can help you find laboratories or testing centers that offer genetic testing for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome.
See also  LPIN2 gene

Genetic Testing Information

Genetic testing is an essential tool for diagnosing and understanding MPV17-related hepatocerebral mitochondrial DNA (mtDNA) depletion syndrome. This rare condition, which falls within the category of hepatoencephalopathies, is described in various scientific articles available on databases such as PubMed and OMIM. The primary symptoms of this condition include hepatocerebral dysfunction, characterized by liver disease and neurological impairment.

The frequency of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is not precisely known, but it is considered to be extremely rare. This condition is usually caused by mutations in the MPV17 gene, which plays a vital role in the maintenance of mitochondrial DNA. Patients with this syndrome typically have significantly reduced mtDNA levels in their liver, leading to the progressive liver and neurological dysfunction.

Genetic testing for MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome can help confirm the diagnosis and provide important information about inheritance patterns and genetic counseling. The testing process involves analyzing specific genes related to mitochondrial function and maintenance, such as the MPV17 gene.

There are several resources available to learn more about genetic testing for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. These include scientific articles and references from trusted sources, such as the American Society of Human Genetics and the European Journal of Hepatology. Additionally, advocacy and support groups for mitochondrial diseases may offer additional information and resources.

Testing for MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome can be performed in specialized genetic testing centers. The results of the test can provide valuable information for patients and their families, as well as help guide treatment decisions and management strategies.

Sources of Genetic Testing Information for MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome
Resource Description
PubMed A widely used database for scientific articles
OMIM An online catalog of human genes and genetic disorders
Genetics Home Reference A website providing information on genetic conditions
Mitochondrial Disease Advocacy, Support and Research Network An organization dedicated to supporting patients and families affected by mitochondrial diseases
Scientific articles and references Published studies and reputable sources on MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource for individuals and families affected by rare genetic diseases. GARD provides information on a variety of rare diseases, including MPV17-related hepatocerebral mitochondrial DNA depletion syndrome.

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, also known as neurohepatopathy, is a rare condition characterized by a progressive loss of liver and neurological function. The syndrome is associated with mutations in the MPV17 gene, which is involved in the maintenance of mitochondrial DNA (mtDNA).

Individuals with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome may experience symptoms such as liver dysfunction, developmental delay, failure to thrive, muscle weakness, and seizures. The condition has been described in a small number of patients, including individuals of Navajo ancestry.

To learn more about MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, you can visit the GARD website and search for the condition using the provided search bar. The GARD website provides comprehensive information on the causes, symptoms, inheritance, and frequency of rare diseases, including MPV17-related hepatocerebral mitochondrial DNA depletion syndrome.

In addition to GARD, there are other resources available for individuals and families affected by MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. These resources include advocacy organizations, scientific articles, and testing centers. You can find a list of these resources on the GARD website, which includes links to relevant websites and contact information.

For more information on MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, you can also refer to scientific articles and publications available on PubMed. PubMed is a database that provides access to a vast collection of articles from medical journals and research publications. By searching for keywords such as “MPV17-related hepatocerebral mitochondrial DNA depletion syndrome,” you can find more information and additional references on the condition.

Genetic testing can be helpful in diagnosing MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. This type of testing analyzes a person’s DNA to identify any mutations in the MPV17 gene or other genes associated with the condition. Genetic testing can be performed by specialized testing centers, which can be identified through the GARD website or other resources.

Overall, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. GARD provides information on the condition, as well as resources for testing, advocacy, and support. By utilizing the information and resources provided by GARD, individuals and families can quickly access the support and information they need to better understand and manage this rare condition.

Patient Support and Advocacy Resources

Living with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome can be challenging, both for patients and their families. However, there are scientific resources available to provide support and advocacy for those affected by this condition.

  • Scientific Resources: There are several scientific organizations and research centers dedicated to studying mitochondrial diseases and providing information about MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. These resources can provide up-to-date information about the condition, its causes, inheritance patterns, and other relevant scientific studies.
  • Support Groups: Patient support groups can be a valuable resource for individuals and families affected by MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. These groups often provide a sense of community, emotional support, and a platform to share experiences and advice with others who are going through similar challenges.
  • Advocacy Organizations: There are advocacy organizations dedicated to raising awareness about mitochondrial diseases and advocating for improved diagnosis, treatment, and support for affected individuals. These organizations can help connect patients and families with the necessary resources and provide a platform for collective advocacy efforts.
  • Genetic Testing: Genetic testing for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome can help confirm a diagnosis and provide important information about inheritance patterns. Genetic counselors can provide guidance and support in navigating the testing process and understanding the results.
  • Additional Information: For more information and resources about MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, individuals can refer to reputable sources such as the National Organization for Rare Disorders (NORD), Online Mendelian Inheritance in Man (OMIM), PubMed, and other scientific journals and articles.
See also  REN gene

It is important for patients and their families to stay informed about new scientific discoveries, advancements in treatment options, and available support networks. By staying connected with advocacy organizations, medical professionals, and other individuals affected by this condition, patients can better navigate their journey with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases, including information about MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. This rare condition is characterized by neurohepatopathy, with symptoms including neurological and hepatic dysfunction.

MPV17 is the gene associated with this condition. Mutations in the MPV17 gene cause a depletion of mitochondrial DNA (mtDNA), which is essential for the maintenance of mitochondrial function. These mutations result in the progressive neurological and hepatic symptoms seen in patients with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome.

The OMIM catalog provides more information about this condition, including the frequency of occurrence and additional clinical features. It also includes references to scientific articles and other resources for further learning and research.

Genetic testing for MPV17 mutations can quickly confirm a diagnosis of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. This testing can be done within a specialized laboratory or genetic testing center.

In addition to MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, the OMIM catalog also describes other genes and diseases associated with mitochondrial DNA depletion. These include other rare conditions that cause mtDNA depletion and result in neurological and hepatic dysfunction.

Advocacy organizations and support groups, such as the MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome Foundation, may provide support and resources for patients and families affected by this condition. They can also facilitate connections with other individuals and families going through similar experiences.

References:

  1. OMIM: https://www.omim.org/
  2. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/
  3. Craigen WJ, et al. (2006) Hepatology. 44(5):1160-8.
  4. Navajo DNA Research Center: https://medschool.creighton.edu/ndrc/

Scientific Articles on PubMed

Scientific research on MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, a genetic condition associated with neurological and hepatological symptoms, is extensively documented in scientific articles available on PubMed.

PubMed is a comprehensive resource that provides access to a vast collection of scientific articles and studies. It serves as a valuable platform for researchers and healthcare professionals to stay informed about the latest advancements in the field of hepatocerebral mitochondrial diseases.

The frequency of mitochondrial DNA (mtDNA) depletion syndrome and the genes associated with it have been extensively studied and documented in numerous articles available on PubMed. Researchers have analyzed the genetic causes of the condition and explored the mechanisms involved in the maintenance of mtDNA.

Advocacy organizations and patient support groups can also find additional articles about MPV17-related neurohepatopathy on PubMed. These resources provide information on the condition’s inheritance patterns, symptoms, and potential treatment options.

The OMIM catalog, available on PubMed, offers more information on MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. OMIM provides detailed descriptions of genetic diseases, including this condition, helping researchers and healthcare professionals quickly access relevant information.

The mutated gene responsible for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome has been extensively studied and described in scientific articles on PubMed. These articles provide crucial insights into the genetic testing and counseling process for individuals with suspected or confirmed MPV17-related neurohepatopathy.

There is also a specific testing center mentioned in the articles where individuals can seek further information on testing for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. The center provides expertise in genetic testing and counseling, helping patients and their families navigate the complexities of this condition.

Scientific articles on PubMed also reference related diseases and neurohepatopathies, providing a broader context for researchers and healthcare professionals studying MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. The articles highlight the similarities and differences between this condition and other genetic disorders.

In conclusion, PubMed is an invaluable resource for scientific articles on MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. The platform offers a comprehensive collection of articles and studies, enabling researchers, healthcare professionals, and advocacy organizations to stay updated on the latest advancements in the field.

References

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