Da-Rè C, von Stockum S, Biscontin A, Millino C, Cisotto P, Zordan MA, Zeviani M, Bernardi P, De Pittà C, Costa R. Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing. J Biol Chem. 2014 Oct 17;289(42):29235-46. PMID: 25164807; PMCID: PMC4200275.
From the abstract: "Leigh Syndrome (LS) is the most common early-onset,
progressive mitochondrial encephalopathy usually leading to early death.
The single most prevalent cause of LS is occurrence of mutations in the
SURF1 gene, and LS(Surf1) patients show a ubiquitous and specific
decrease in the activity of mitochondrial respiratory chain complex IV
(cytochrome c oxidase, COX). SURF1 encodes an inner membrane
mitochondrial protein involved in COX assembly. We established a Drosophila melanogaster model of LS based on the post-transcriptional silencing of CG9943, the Drosophila
homolog of SURF1. ... We conclude that
Surf1 is essential for COX activity and mitochondrial function in D.
melanogaster, thus providing a new tool that may help clarify the
pathogenic mechanisms of LS."
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