Mitochondrial studies in Kearns-Sayre syndrome: normal respiratory chain function with absence of a mitochondrial translation product
Byrne, E.; Marzuki, S.; Sattayasai, N.; Dennett, X.; Trounce, I.
Neurology 37(9): 1530-1534
1987
ISSN/ISBN: 0028-3878 PMID: 3627452 Document Number: 302258
Intact mitochondria were isolated from skeletal muscle of two patients with Kearns-Sayre syndrome (retinitis pigmentosa, heart block, chronic external ophthalmoplegia), and mitochondrial protein translation was measured. Mitochondrial protein synthesis was up to 10 times greater than in control subjects and SDS-polyacrylamide gel electrophoresis revealed absence of a translation product with the mobility of a 5 KDa protein. State 3 respiration rates were normal with site 1 and site 2 substrates, suggesting that the absent protein was not a functional subunit of a respiratory chain complex.