[HTML][HTML] Mitochondrial diseases and genetic defects of ATP synthase

J Houštěk, A Pícková, A Vojtíšková, T Mráček… - … et Biophysica Acta (BBA …, 2006 - Elsevier
J Houštěk, A Pícková, A Vojtíšková, T Mráček, P Pecina, P Ješina
Biochimica et Biophysica Acta (BBA)-Bioenergetics, 2006Elsevier
ATP synthase is a key enzyme of mitochondrial energy conversion. In mammals, it produces
most of cellular ATP. Alteration of ATP synthase biogenesis may cause two types of isolated
defects: qualitative when the enzyme is structurally modified and does not function properly,
and quantitative when it is present in insufficient amounts. In both cases the cellular energy
provision is impaired, and diminished use of mitochondrial ΔμH+ promotes ROS production
by the mitochondrial respiratory chain. The primary genetic defects have so far been …
ATP synthase is a key enzyme of mitochondrial energy conversion. In mammals, it produces most of cellular ATP. Alteration of ATP synthase biogenesis may cause two types of isolated defects: qualitative when the enzyme is structurally modified and does not function properly, and quantitative when it is present in insufficient amounts. In both cases the cellular energy provision is impaired, and diminished use of mitochondrial ΔμH+ promotes ROS production by the mitochondrial respiratory chain. The primary genetic defects have so far been localized in mtDNA ATP6 gene and nuclear ATP12 gene, however, involvement of other nuclear genes is highly probable.
Elsevier