TaqMan-MGB probe quantitative PCR assays to genotype and quantify three mtDNA mutations of Leber hereditary optic neuropathy
نویسندگان
چکیده
منابع مشابه
Mouse mtDNA mutant model of Leber hereditary optic neuropathy.
An animal model of Leber hereditary optic neuropathy (LHON) was produced by introducing the human optic atrophy mtDNA ND6 P25L mutation into the mouse. Mice with this mutation exhibited reduction in retinal function by elecroretinogram (ERG), age-related decline in central smaller caliber optic nerve fibers with sparing of larger peripheral fibers, neuronal accumulation of abnormal mitochondria...
متن کاملLeber hereditary optic neuropathy.
BACKGROUND Leber hereditary optic neuropathy (LHON) is a cause of inherited blindness that typically presents with bilateral, painless, subacute visual failure in young adult males. Males are about four times more likely to be affected than females and 95% of LHON carriers become affected before the age of 50. Affected patients may have characteristic ocular fundal appearances and have evidence...
متن کاملLeber hereditary optic neuropathy
Leber hereditary optic neuropathy is a maternally inherited bilateral optic neuropathy that typically affects teenage males with acute vision loss first in one eye and then the other within days or weeks. The etiology involves a point mutation in the mitochondrial DNA at 1 of 3 main loci: 11778, 14484, or 3460. There are some distinctive changes in the ocular fundus appearance at various stages...
متن کاملClinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations
OBJECTIVE To determine whether the association between multiple sclerosis (MS) and Leber hereditary optic neuropathy (LHON) (known as "Harding disease") is a chance finding, or the 2 disorders are mechanistically linked. METHODS We performed a United Kingdom-wide prospective cohort study of prevalent cases of MS with LHON mitochondrial DNA (mtDNA) mutations. The new cases were compared with p...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Scientific Reports
سال: 2020
ISSN: 2045-2322
DOI: 10.1038/s41598-020-69220-7