MPV17 Gene

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Lily Guo	+ 382 word(s)	382	2020-12-15 08:01:11

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/mpv17

mitochondrial inner membrane protein MPV17

genes

1. Introduction

The MPV17 gene provides instructions for making a protein whose function is largely unknown. The MPV17 protein is located in the inner membrane of cell structures called mitochondria. Mitochondria are involved in a wide variety of cellular activities, including energy production, chemical signaling, and regulation of cell growth and division. Mitochondria contain their own DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. It is likely that the MPV17 protein is involved in the maintenance of mtDNA. Having an adequate amount of mtDNA is essential for normal energy production within cells.

2. Health Conditions Related to Genetic Changes

2.1. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

More than 30 mutations in the MPV17 gene have been found to cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, a condition characterized by liver disease and neurological problems that begin in infancy. Most of the mutations that cause this condition change single protein building blocks (amino acids) in the MPV17 protein. One mutation that almost exclusively affects the Navajo population of the southwestern United States replaces the amino acid arginine with the amino acid glutamine at position 50 in the protein (written as R50Q). This mutation results in the production of an unstable MPV17 protein that is quickly broken down. When the condition occurs in people of Navajo ancestry, it is called Navajo neurohepatopathy.

The changes in the MPV17 protein that cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, including the R50Q mutation, impair protein function and reduce the amount of protein that is available. A dysfunctional or absent MPV17 protein leads to problems with the maintenance of mtDNA, which can cause a reduction in the amount of mtDNA (known as mitochondrial DNA depletion). Mitochondrial DNA depletion impairs mitochondrial function in many of the body's cells and tissues, particularly the brain, liver, and other tissues that have high energy requirements. Reduced mitochondrial function in the liver and brain lead to the liver failure and neurological dysfunction associated with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. Researchers suggest that the less mtDNA that is available in cells, the more severe the features of Navajo neurohepatopathy.

3. Other Names for This Gene

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

References

El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ. MPV17-associatedhepatocerebral mitochondrial DNA depletion syndrome: new patients and novelmutations. Mol Genet Metab. 2010 Mar;99(3):300-8. doi:10.1016/j.ymgme.2009.10.003.
Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J,Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M.Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J HumGenet. 2006 Sep;79(3):544-8.
Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL,Shanske S, Ganesh J, Di Mauro S, Zeviani M. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol. 2008Aug;65(8):1108-13. doi: 10.1001/archneur.65.8.1108.
Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S,Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A,DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M.MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantilehepatic mitochondrial DNA depletion. Nat Genet. 2006 May;38(5):570-5.
Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, PuchowiczMA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Mutations in the MPV17 geneare responsible for rapidly progressive liver failure in infancy. Hepatology.2007 Oct;46(4):1218-27. Erratum in: Hepatology. 2008 Feb;47(2):768.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :

Lily Guo

View Times: 242

Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

Table of Contents

Video Upload Options

Confirm