PuSH - Publikationsserver des Helmholtz Zentrums München

Hempel, M.* ; Kremer, L.S. ; Tsiakas, K.* ; Alhaddad, B.* ; Haack, T.B. ; Löbel, U.* ; Feichtinger, R.G.* ; Sperl, W.* ; Prokisch, H. ; Mayr, J.A.* ; Santer, R.*

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

Mitochondrion 37, 55-61 (2017)
DOI Verlagsversion bestellen
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
LYRM7 is involved in the last steps of mitochondrial complex III assembly where it acts as a chaperone for the Rieske iron‑sulfur (Fe-S) protein in the mitochondrial matrix. Using exome sequencing, we identified homozygosity for a splice site destroying 4 base pair deletion in LYRM7 in a child with recurrent lactic acidotic crises and distinct early-onset leukencephalopathy. Sanger sequencing showed variant segregation in similarly affected family members. Functional analyses revealed a reduced amount of the Rieske Fe-S protein, which was restored after re-expression of LYRM7. Our data provide further evidence for the importance of LYRM7 for mitochondrial function and emphasise the importance of whole exome sequencing in the diagnosis of rare mitochondrial diseases.
Weitere Metriken?
Zusatzinfos bearbeiten [➜Einloggen]
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Complex Iii ; Encephalopathy ; Lyrm7 ; Lactic Acidosis ; Mitochondriopathy ; Whole Exome Sequencing; Mitochondrial Disease; I Deficiency; Mutations; Dna; Leukoencephalopathy; Encephalopathy; Lyrm7/mzm1l; Bcs1l
ISSN (print) / ISBN 1567-7249
e-ISSN 1872-8278
Zeitschrift Mitochondrion
Quellenangaben Band: 37, Heft: , Seiten: 55-61 Artikelnummer: , Supplement: ,
Verlag Elsevier
Verlagsort Oxford