Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.
BCS1L
Drosophila melanogaster
Mitochondrial disease
Mitochondrial respiratory chain
Respiratory chain complex III
Journal
Journal of molecular medicine (Berlin, Germany)
ISSN: 1432-1440
Titre abrégé: J Mol Med (Berl)
Pays: Germany
ID NLM: 9504370
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
received:
21
01
2021
accepted:
29
06
2021
revised:
04
06
2021
pubmed:
19
7
2021
medline:
16
2
2022
entrez:
18
7
2021
Statut:
ppublish
Résumé
Mutations in BCS1L are the most frequent cause of human mitochondrial disease linked to complex III deficiency. Different forms of BCS1L-related diseases and more than 20 pathogenic alleles have been reported to date. Clinical symptoms are highly heterogenous, and multisystem involvement is often present, with liver and brain being the most frequently affected organs. BCS1L encodes a mitochondrial AAA + -family member with essential roles in the latest steps in the biogenesis of mitochondrial respiratory chain complex III. Since Bcs1 has been investigated mostly in yeast and mammals, its function in invertebrates remains largely unknown. Here, we describe the phenotypical, biochemical and metabolic consequences of Bcs1 genetic manipulation in Drosophila melanogaster. Our data demonstrate the fundamental role of Bcs1 in complex III biogenesis in invertebrates and provide novel, reliable models for BCS1L-related human mitochondrial diseases. These models recapitulate several features of the human disorders, collectively pointing to a crucial role of Bcs1 and, in turn, of complex III, in development, organismal fitness and physiology of several tissues.
Identifiants
pubmed: 34274978
doi: 10.1007/s00109-021-02110-1
pii: 10.1007/s00109-021-02110-1
pmc: PMC8455400
doi:
Substances chimiques
BCS1L protein, human
0
Molecular Chaperones
0
ATPases Associated with Diverse Cellular Activities
EC 3.6.4.-
Electron Transport Complex III
EC 7.1.1.8
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1471-1485Informations de copyright
© 2021. The Author(s).
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