当前位置： SCI文献检索 > JOURNAL OF THE NEUROLOGICAL SCIENCES期刊下所有文献 > Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies.

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies.

Abstract：

: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.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Degoul F,Nelson I,Lestienne P,Francois D,Romero N,Duboc D,Eymard B,Fardeau M,Ponsot G,Paturneau-Jouas M

doi

10.1016/0022-510x(91)90042-6

subject

Has Abstract,Author List Incomplete

pub_date

1991-02-01 00:00:00

pages

168-77

issue

2

eissn

0022-510X

issn

1878-5883

pii

0022-510X(91)90042-6

journal_volume

101

pub_type

杂志文章

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