Recombinant Human Protein Mpv17 (MPV17), partial

1. The authors describe an 11 year old girl, born to consanguineous parents, who presented with rapidly progressive MPV17 hepatocerebral mitochondrial DNA depletion syndrome. Genetic analysis of the patient revealed a homozygous pathogenic mutation c.121C>T (p.R41W) in the MPV17 gene. PMID: 28673863
2. New case of Navajo Neurohepatopathy presented + literature review is provided to assist in diagnosis and management of the disease. PMID: 28209105
3. We report a novel homozygous mutation in MPV17 from two unrelated patients harboring axonal sensorimotor polyneuropathy without hepatoencephalopathy. PMID: 26437932
4. MPV17 is a Deltapsim-modulating channel that apparently contributes to mitochondrial homeostasis under different conditions PMID: 25861990
5. 12 pathogenic mutations in mitochondrial DNA depletion syndrome in the MPV17 gene, of which 11 are novel, in 17 patients from 12 families. PMID: 23714749
6. A novel c.191C>G (p.Pro64Arg) MPV17 mutation has been identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. PMID: 23829229
7. Case Report: functional splicing assay based on the use of minigenes to support that MPV17 c.70 + 5G > A mutation is disease causing. PMID: 20614188
8. results suggest that M-LPH functions to protect cells from oxidative stress and/or initiation of the mitochondrial apoptotic cascade under stressed conditions PMID: 22306510
9. eight new patients with seven novel mutations in MPV17 PMID: 20074988
10. MPV17 is a mitochondrial inner membrane protein, and its absence or malfunction causes oxidative phosphorylation (OXPHOS) failure and mtDNA depletion, not only in affected individuals but also in Mpv17-/- mice PMID: 16582910
11. These results show the existence of the human homolog of M-LP and its participation in reactive oxygen species metabolism. PMID: 16631601
12. Sequencing of the MPV17 gene in six patients with Navajo neurohepatopathy from five families revealed the homozygous R50Q mutation described elsewhere. PMID: 16909392
13. Mutations in the MPV17 gene should be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure. PMID: 17694548
14. Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians. PMID: 18261905
15. Lethal hepatopathy, polyneuropathy, neurological regression and leukodystrophy are associated with mutations in MPV17. PMID: 18329934
16. study describes clinical, molecular morphological & biochemical features of 3 children with hepatocerebral mitochondrial DNA depletion syndrome secondary to novel MPV17 mutations; data confirm MPV17 mutations are associated with a 2-stage syndrome PMID: 18695062
17. describes in detail the specific clinical and biological characteristics of three patients with MPV17 gene mutations, a rare hepatocerebral mitochondrial DNA depletion syndrome (MDS) PMID: 19012992
18. clinical courses of patients with MPV17 mutations are greatly influenced by viral infections & dietary & pharmaceutical treatments targeting mitochondrial respiratory chain complex II may be beneficial in the clinical management of MPV17 mutant patients. PMID: 19520594

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HGNC: 7224

OMIM: 137960

KEGG: hsa:4358

STRING: 9606.ENSP00000233545

UniGene: Hs.75659