This recently published translational study sheds light on the UQCRH gene and mitochondrial complex III diseases. An international team led by researchers and clinicians from Helmholtz Zentrum München, Germany, Manchester Centre for Genomic Medicine, UK, Newcastle University, UK and University Hospital Salzburg, Austria, identified two cousins with a deletion in the UQCRH gene, which codes for a structural complex III subunit, and characterized a novel mouse model that carries the equivalent deletion in Uqcrh. The characteristics and biochemical similarities of the Uqcrh-/- mouse model suggest that this could be a valuable system to study the biology of human diseases caused by CIII defects. In addition, the disease model can support the development of new and more effective therapeutic strategies targeting CIII defects or related mitochondrial disorders.
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Vidali S, Gerlini R, Thompson K, Urquhart JE, Meisterknecht J, Aguilar-Pimentel JA, Amarie OV, Becker L, Breen C, Calzada-Wack J, Chhabra NF, Cho YL, da Silva-Buttkus P, Feichtinger RG, Gampe K, Garrett L, Hoefig KP, Hölter SM, Jameson E, Klein-Rodewald T, Leuchtenberger S, Marschall S, Mayer-Kuckuk P, Miller G, Oestereicher MA, Pfannes K, Rathkolb B, Rozman J, Sanders C, Spielmann N, Stoeger C, Szibor M, Treise I, Walter JH, Wurst W, Mayr JA, Fuchs H, Gärtner U, Wittig I, Taylor RW, Newman WG, Prokisch H, Gailus-Durner V, Hrabě de Angelis M. Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. EMBO Mol Med. 2021 Nov 8:e14397. PMID: 34750991.