Recently Laura Sanchez-Caballero, Dept of. Pediatrics, theme Mitochondrial diseases and colleagues published an article in American Journal of Human Genetics.
The authors describe how compound heterozygous mutations in the gene TMEM126B can result in mitochondrial complex I deficiency. The TMEM126B protein is required for assembly of the complex. The defect in one patient highlighted problems with the assembly of the membrane arm of complex I.
These results are an import contribution to the molecular understanding of complex I deficiency, further empasizing the relevance of (early) membrane arm assembly through various assembly factors such as ACAD9, ECSIT and NDUFAF1, and now TMEM126B. In addition, the results facilitate the genetic diagnostic screening for complex I deficiency.
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