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MPV17 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MPV17 gene

The MPV17 gene provides instructions for a protein located in the mitochondria that is essential for maintaining mitochondrial DNA and energy production.

Normal Function

The MPV17 gene provides instructions for making a protein located in the inner membrane of mitochondria. Mitochondria are responsible for energy production, chemical signaling, and the regulation of cell growth. The MPV17 protein is likely involved in the maintenance of mitochondrial DNA (mtDNA), which is essential for the normal function of these structures and for energy production within cells.

Health Conditions Related to Genetic Changes

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

More than 30 mutations in the MPV17 gene cause this syndrome, which is characterized by liver disease and neurological problems beginning in infancy. These mutations impair protein function and reduce the amount of available protein, leading to mitochondrial DNA depletion.

This depletion impairs mitochondrial function, particularly in tissues with high energy requirements like the brain and liver. Features include:

  • Liver failure: Resulting from reduced mitochondrial function in liver cells.
  • Neurological dysfunction: Caused by impaired energy production in the brain.
  • Navajo neurohepatopathy: A specific form of this condition found in the Navajo population, caused by the R50Q mutation, which results in an unstable protein that is quickly broken down.

Charcot-Marie-Tooth disease

MedlinePlus Genetics provides additional information regarding the association between the MPV17 gene and Charcot-Marie-Tooth disease.

Other Names for This Gene

  • MpV17 mitochondrial inner membrane protein
  • MPV17, mitochondrial inner membrane protein
  • MPV17_HUMAN
  • MTDPS6
  • SYM1

Frequently Asked Questions

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is a severe and progressive condition. The prognosis is often poor, with many affected infants experiencing significant morbidity and mortality, particularly due to liver failure and severe neurological dysfunction. The severity can vary, but it generally leads to significant health challenges.
Diagnosis typically involves a combination of clinical evaluation of symptoms, biochemical tests showing liver dysfunction and metabolic abnormalities, and genetic testing. Genetic testing can identify specific mutations in the MPV17 gene, confirming the diagnosis. Muscle or liver biopsies may also be performed to assess mitochondrial function and DNA levels.
Currently, there is no cure for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. Treatment is primarily supportive and aims to manage symptoms and complications. This may include nutritional support, medications to manage liver disease or seizures, and therapies to support neurological function. In some cases, liver transplantation may be considered, but it does not address the neurological progression.
This syndrome typically presents in infancy with severe liver disease and neurological problems. Early signs can include poor feeding, vomiting, jaundice, and signs of liver failure. Neurological symptoms may involve developmental delay, muscle weakness, and seizures, all stemming from impaired energy production in the brain and liver due to mitochondrial DNA depletion.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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