Mutation in the NDUFS4 gene of complex I abolishes cAMP‐dependent activation of the complex in a child with fatal neurological syndrome

[摘要]

Evidence is presented showing that in a patient with fatal neurological syndrome, the homozygous 5 bp duplication in the cDNA of the NDUFS4 18 kDa subunit of complex I abolishes cAMP-dependent phosphorylation of this protein and activation of the complex. These findings show for the first time that human complex I is regulated via phosphorylation of the subunit encoded by the NDUFS4 gene.

[学科分类] 生物化学/生物物理

[关键词] NDUFS4 gene;Complex I;Human fibroblast;cAMP-dependent phosphoprotein;DMEM;Dulbecco's modified Eagle's medium;PBS;phosphate-buffered saline;IBMX;3-isobutyl-1-methylxanthine;SDS–PAGE;sodium dodecylsulfate polyacrylamide gel electrophoresis;CCCP;carbonyl-cyanide-m-chlorophenylhydrazone