These authors contributed equally to this work.
A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity
Article first published online: 23 SEP 2013
© 2013 The Authors. *Human Mutation published by Wiley Periodicals, Inc.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
Volume 34, Issue 12, pages 1619–1622, December 2013
How to Cite
Invernizzi, F., Tigano, M., Dallabona, C., Donnini, C., Ferrero, I., Cremonte, M., Ghezzi, D., Lamperti, C. and Zeviani, M. (2013), A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity. Hum. Mutat., 34: 1619–1622. doi: 10.1002/humu.22441
Contract grant sponsor: Telethon Italy (GGP11011, GPP10005); Fondazione CARIPLO (2011/0526); The Italian Ministry of Health (GR2010-2316392); Fondazione Pierfranco e Luisa Mariani; The Italian Association of Mitochondrial Disease Patients and Families (Mitocon).
Communicated by David S. Rosenblatt
- Issue published online: 13 NOV 2013
- Article first published online: 23 SEP 2013
- Accepted manuscript online: 6 SEP 2013 12:39PM EST
- Manuscript Accepted: 29 AUG 2013
- Manuscript Received: 20 JUN 2013
- Telethon Italy. Grant Numbers: GGP11011, GPP10005
- Fondazione CARIPLO. Grant Number: 2011/0526
- The Italian Ministry of Health. Grant Number: GR2010-2316392
- Fondazione Pierfranco e Luisa Mariani
- The Italian Association of Mitochondrial Disease Patients and Families (Mitocon)
- 2010. Mzm1 influences a labile pool of mitochondrial zinc important for respiratory function. J Biol Chem 285:19450–19459. , , , , , .
- 2011. The LYR protein Mzm1 functions in the insertion of the Rieske Fe/S protein in yeast mitochondria. Mol Cell Biol 31:3988–3996. , , , , , .
- 2010. In vivo analysis of mtDNA replication defects in yeast. Methods 51:426–436. , , .
- 2004. Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659:136–147. , , , , , , , , , , , .
- 1988. Assembly of the mitochondrial membrane system. Analysis of structural mutants of the yeast coenzyme QH2–cytochrome c reductase complex. J Biol Chem 263:14323–14333. , , .
- 2012. Late-stage maturation of the Rieske Fe/S protein: Mzm1 stabilizes Rip1 but does not facilitate its translocation by the AAA ATPase Bcs1. Mol Cell Biol 32:4400–4409. , , , , .
- 2011. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet 43:259–263. , , , , , , , , , , , , .
- 2011. Mitochondrial disorders: Nuclear gene mutations. In Encyclopedia of life sciences (ELS). Chichester: John Wiley & Sons, Ltd. DOI: 10.1002/9780470015902.a0005540.pub2. , .
- 2009. Functional study in a yeast model of a novel succinate-dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor. Hum Mol Genet 18:1860–1868. , , , , , , , , .
- 1994. Protease maturation of the Rieske iron–sulphur protein after its insertion into the mitochondrial cytochrome bc1 complex of Saccharomyces cerevisiae. Biochem Soc Trans 22:188–191. , , .
- 1984. Needle biopsy of skeletal muscle. Muscle Nerve 7:594. , .
- 1993. Isolation of the DLD gene of Saccharomyces cerevisiae encoding the mitochondrial enzyme d-lactate ferricytochrome c oxidoreductase. Mol Gen Genet 238:315–324. , .
- 2013. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mutat 34:446–452. , , , , , , , , , , , , et al.
- 1999. Intermediate length Rieske iron–sulfur protein is present and functionally active in the cytochrome bc1 complex of Saccharomyces cerevisiae. J Biol Chem 274:9253–9257. , .
- 2013. LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells. Biochim Biophys Acta 1827:285–293. , , , , , .
- 1989. High efficiency transformation of intact yeast cells using single stranded nucleic acids as a carrier. Curr Genet 16:339–346. , .
- 1996. Cytochemistry and immunocytochemistry of mitochondria in tissue sections. Methods Enzymol 264:509–521. , .