|
KMID : 0367419960390101461
|
|
Journal of Korean Pediatric Society
1996 Volume.39 No. 10 p.1461 ~ p.1465
|
|
|
A Pediatric Case of MELAS Syndrome Associated with Insulin-dependent Diabetes Mellitus
|
|
박경란
박혜원/고태성/정해일/양세원/황용승/김인원/지제근
|
|
|
Abstract
|
|
|
AELAS(mitochondrial myopathy, encephalopathy, lactic acidosis, and sroke like episodes) is a major subgroup of heterogeneous mitochondrial encephalopathy. Recent advances in molecular genetics revealed specific mutations in the mitochondrial DNA
causing
MELAS. We described clinical and molecular genetic findings of a 13-year-old boy with MELAS syndrome associated IDDM(insulin dependent diabetes mellitus). For molecular genetic studies, DNAs from peripheral blood nucleated cells were used. And
the
A→G
substitution at the nt position 3,243 in the mitochodrial tRNAleu(UUR) gene in a heteroplasmic fashion was confirmed i the patient and his mother, which supporting maternal transmission. The mother had no neuromuscular syndromes but was diabetic.
The
islet cell antibody was abscent in both the patient and his mother, proving an indirect evidence of βcell destruction was causes by the definite mitochondrial DNA itself. The association of MELAS syndrome and IDDM has been reported vary rarely,
and
this is the first case report in Korea.
|
|
|
KEYWORD
|
|
|
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|