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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.
Mitochondrion 37, 55-61 (2017)
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.
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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,
Seiten: 55-61
Verlag
Elsevier
Verlagsort
Oxford
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)