DELETIONS OF MITOCHONDRIAL-DNA IN KEARNS-SAYRE SYNDROME AND OCULAR MYOPATHIES - GENETIC, BIOCHEMICAL AND MORPHOLOGICAL-STUDIES

作者：DEGOUL F^*; NELSON I; LESTIENNE P; FRANCOIS D; ROMERO N; DUBOC D; EYMARD B; FARDEAU M; PONSOT G; PATURNEAUJOUAS M; CHAUSSAIN M; LEROUX JP; MARSAC C

来源：Journal of the Neurological Sciences, 1991, 101(2): 168-177.

DOI：10.1016/0022-510X(91)90042-6

• KEARNS-SAYRE SYNDROME
• OCULAR MYOPATHY
• MITOCHONDRIAL RESPIRATION
• DNA DELETIONS
• CYTOCHROME-C OXIDASE
• SUCCINATE CYTOCHROME-C REDUCTASE

Genetic, biochemical and morphological investigations were conducted on skeletal muscle mitochondria from 6 cases of ocular myopathy: 4 cases with Kearns-Sayre syndrome (KSS) and 2 with chronic progressive external ophthalmoplegia. All of these 6 cases showed mitochondrial DNA (mtDNA) deletions in addition to normal sized DNA in the quadriceps muscle. The deletions ranging from 3 to 8 kbp were also mapped between nucleotides 5500 and 16000 by Southern blot. The deleted genes encoded for some subunits of complexes I, IV, V and 5-10 tRNAS. The boundaries of the deletions have been sequenced in three patients. Five patients had mitochondrial respiratory chain deficiency in complex I as shown by the low oxygen consumption in isolated mitochondria using three NAD+-linked substrates. Mitochondria with an abnormal ultrastructure were also observed in 2 cases. A good relationship between the cytochrome c oxidase deficiency and the amount of deleted mtDNA was shown in our present investigations.

• 出版日期1991-2