Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice.
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ABSTRACT:
SUBMITTER: Bannwarth S
PROVIDER: S-EPMC5454384 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Publications
Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice.
Bannwarth Sylvie S Berg-Alonso Laetitia L Augé Gaëlle G Fragaki Konstantina K Kolesar Jill E JE Lespinasse Françoise F Lacas-Gervais Sandra S Burel-Vandenbos Fanny F Villa Elodie E Belmonte Frances F Michiels Jean-François JF Ricci Jean-Ehrland JE Gherardi Romain R Harrington Lea L Kaufman Brett A BA Paquis-Flucklinger Véronique V
Mitochondrion 20160224
Mutations in genes coding for mitochondrial helicases such as TWINKLE and DNA2 are involved in mitochondrial myopathies with mtDNA instability in both human and mouse. We show that inactivation of Pif1, a third member of the mitochondrial helicase family, causes a similar phenotype in mouse. pif1-/- animals develop a mitochondrial myopathy with respiratory chain deficiency. Pif1 inactivation is responsible for a deficiency to repair oxidative stress-induced mtDNA damage in mouse embryonic fibrob ...[more]
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