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J Hum Genet ; 63(6): 707-716, 2018 Jun.
Article in English | MEDLINE | ID: mdl-29618761

ABSTRACT

Seven subunits of the mitochondrial contact site and cristae junction (CJ) organizing system (MICOS) in humans have been recently described in function and structure. QIL1 (also named MIC13) is a small complex that is crucial for the maintenance and assembling of MICOS. A novel mutation of an essential splice site in the C19orf70 gene encoding QIL1 induces severe mitochondrial encephalopathy, hepatopathy and lactate acidosis consistent with psychomotor retardation. In addition, bilateral kidney stones were observed. Disassembly of MICOS complex subunits displays lack of MIC10-MIC26-MIC27-QIL1 subcomplex, resulting in aberrant cristae structure and a loss of cristae junctions and contact sites. In liver and muscle tissue, the activity of the respiratory chain complexes (OXPHOS) was severely impaired. Defects in MICOS complex do not only affect mitochondrial architecture, but also mitochondrial fusion, metabolic signalling, lipid trafficking and cellular electric homeostasis.


Subject(s)
Genes, Lethal , Liver Diseases/genetics , Membrane Proteins/genetics , Mitochondria/metabolism , Mitochondrial Encephalomyopathies/genetics , Mitochondrial Proteins/genetics , Mutation , Psychomotor Performance , Acidosis, Lactic/complications , Brain/diagnostic imaging , Electron Transport , Fatal Outcome , Female , Humans , Infant , Infant, Newborn , Kidney Calculi/complications , Liver/metabolism , Liver Diseases/complications , Liver Diseases/physiopathology , Magnetic Resonance Imaging , Mitochondrial Encephalomyopathies/complications , Mitochondrial Encephalomyopathies/diagnostic imaging , Mitochondrial Encephalomyopathies/physiopathology , Muscles/metabolism , Open Reading Frames , Oxidative Phosphorylation , RNA Splice Sites
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