This report describes a Drosophila model using the fly gene Mpv17 to model neurological disorder(s) caused by mutation of the human gene MPV17, which encodes a mitochondrial inner membrane protein involved in mitochondrial deoxynuclueotide homeostasis and maintenance of mitochondrial DNA. Dmel\Mpv17 is orthologous to human MPV17, which has been implicated in mitochondrial DNA depletion syndrome 6 (MIM:256810, FBhh0001498) and Charcot-Marie-Tooth disease, axonal, type 2EE (MIM:618400, FBhh0001499). RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated for Dmel\Mpv17.
A tagged wild-type UAS construct of the human gene, Hsap\MPV17 has been introduced into flies.
Pan-neuronal RNAi-mediated targeted knockdown of Dmel\Mpv17 results in deficits in learning and locomotive behavior, impairs mitochondrial function in the larval CNS, and induces abnormal morphology in the larval neuromuscular junction.
[updated Feb. 2023 by FlyBase; FBrf0222196]
Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis (Antonenkov, et al., 2015, pubmed:25861990). Involved in mitochondrial deoxynucleoside triphosphates (dNTP) pool homeostasis and mitochondrial DNA (mtDNA) maintenance (Dalla Rosa, et al., 2016, pubmed:26760297). May be involved in the regulation of reactive oxygen species metabolism and the control of oxidative phosphorylation. [from Uniprot:P39210; 2023.02.22]
One to one (1 human to 1 Drosophila); MPV17 has one high-scoring Drosophila ortholog, Mpv17.
High-scoring ortholog of human MPV17(1 Drosophila to 1 human).
