We developed a diagnostic test based on the reverse dot-blot principle, in which five mitochondrial point mutations responsible for Leber hereditary optic neuropathy (LHON) were screened simultaneously. A series of wild-type and mutant oligonucleotides representing each mutation were covalently bound to a single nylon membrane strip. The target sites were amplified in a multiplex PCR and the pr...

TEis problem has been of only moderate interest to research workers, and publications and monographs on the subject have been sporadic, though a few well-known names must be cited here (Leber, 1865a, b, 1872, 1903; Magitot, 1908, 1947; Behr, 1935; Wolff, 1939, 1940, 1948). The findings being very diverse, it seemed appropriate to try to find experimentally the normal vascular anatomy of the opt...

Leber Hereditary Optic Neuropathy (LHON) is an important cause of inherited mitochondrial blindness among young adults. The majority of patients carry one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A and m.14484T>C, all of which affect critical complex I subunits of the mitochondrial respiratory chain. LHON is characterised by marked incomplete penetrance, clearly i...

Dysfunction of mitochondrial complex I is a feature of human neurodegenerative diseases such as Leber hereditary optic neuropathy and Parkinson's disease. This mitochondrial defect is associated with a recruitment of the mitochondrial-dependent apoptotic pathway in vivo. However, in isolated brain mitochondria, complex I dysfunction caused by either pharmacological or genetic means fails to dir...

Purpose To present a report of longitudinal changes in radial peripapillary capillaries (RPC) and changes in retinal full thickness (RFT) and peripapillary retinal nerve fiber layer (RNFL) in a patient with Leber hereditary optic neuropathy (LHON). Observations A 42-year-old man presented with acute- and presymptomatic-stage LHON in the left (OS) and right (OD) eyes, respectively, at the init...

For Marsden-Weinstein reduction at the point 0 in g∗, the well-known Jeffrey-Kirwan-Witten localization formula was proven and then by M. Vergne modified. We prove in this paper the same kind formula for the reduction at regular co-adjoint orbits by using the universal orbital formula of characters.