کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10882974 1078344 2013 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوفیزیک
پیش نمایش صفحه اول مقاله
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms
چکیده انگلیسی
New mutations in mitochondrial DNA encoded genes of complex I are rarely reported. An infant developed Leigh disease with infantile spasms. Complex I enzyme activity was deficient and response to increasing coenzyme Q concentrations was reduced. Complex I assembly was intact. A new mutation in MT-ND1 m.3928G>C p.V208L, affecting a conserved amino acid in a critical domain, part of the coenzyme Q binding pocket, was present at high heteroplasmy. The unaffected mother did not carry measurable mutant mitochondrial DNA, but concern remained for gonadal mosaicism. Prenatal testing was possible for a subsequent sibling. The ND1 p.V208L mutation causes Leigh disease.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Mitochondrion - Volume 13, Issue 6, November 2013, Pages 656-661
نویسندگان
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