کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3038228 1184454 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Biochemical and genetic analysis of Leigh syndrome patients in Korea
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Biochemical and genetic analysis of Leigh syndrome patients in Korea
چکیده انگلیسی

Sixteen Korean patients with Leigh syndrome were identified at the Seoul National University Children’s Hospital in 2001–2006. Biochemical or molecular defects were identified in 14 patients (87.5%). Thirteen patients had respiratory chain enzyme defects; 9 had complex I deficiency, and 4 had combined defects of complex I + III + IV. Based on the biochemical defects, targeted genetic studies in 4 patients with complex I deficiency revealed two heteroplasmic mitochondrial DNA mutations in ND genes. One patient had the mitochondrial DNA T8993G point mutation. No mitochondrial DNA defects were identified in 11 (68.7%) of our LS patients, who probably have mutations in nuclear DNA. Although a limited study based in a single tertiary medical center, our findings suggest that isolated complex I deficiency may be the most common cause of Leigh syndrome in Korea.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 30, Issue 6, June 2008, Pages 387–390
نویسندگان
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