The novel protein ADCK2 (aarF domain-containing protein kinase 2) has been predicted as an atypical mitochondrial kinase that is involved in the coenzyme Q10 synthesis pathway. First we demonstrated its mitochondrial localization by subcellular fractionation techniques, specifically in the matrix and probably also in MAMs. We then analysed patients fibroblasts with typical symptoms of mitochondrial diseases, like muscle weakness and lactic acidosis, that carry mutations in ADCK2 gene. We found in these cells low levels of coenzyme Q10 and a deregulation of other mitochondrial processes, like fatty acid b-oxidation or respiratory chain complex I activity. Silencing and overexpression of ADCK2 in several cell lines suggest a relationship between ADCK2 and the altered metabolic processes observed in patients fibroblasts. These results indicate that ADCK2 is involved in coenzyme Q10 synthesis pathway, affecting other metabolism processes in mitochondria.

Resumen del póster presentado al 22nd IUBMB & 37th FEBS Congress, celebrado en Sevilla (España) del 4 al 9 de septiembre de 2012.

Peer reviewed