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 products were hybridized to the membrane. Detection is based on chemiluminescence. To test the developed assay, 47 patients suspected of having LHON were screened. In 11 cases (23%) the diagnosis of LHON could be confirmed (3460, 1; 9804, 1; 11778, 5; 14484, 3; 15257, 1). The results suggest that the clinical identification of the mitochondrial defect is not trivial and the availability of a rapid screening method simplifies the molecular analysis of these cases.
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Front Biosci (Landmark Ed)
January 2025
Department of Neurology, Jinshan Hospital, Fudan University, 201508 Shanghai, China.
Background: Neuronal cholesterol deficiency may contribute to the synaptopathy observed in Alzheimer's disease (AD). However, the underlying mechanisms remain poorly understood. Intact synaptic vesicle (SV) mobility is crucial for normal synaptic function, whereas disrupted SV mobility can trigger the synaptopathy associated with AD.
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January 2025
Department of Ophthalmology, Xingtai People's Hospital, Xingtai, 054001, Hebei, China.
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January 2025
Department of Medicine, BioSystems Design Lab, College of Medicine, Chung-Ang University, 84 Heukseok-ro, Dongjak-gu, Seoul, 06974, Korea.
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Invest Ophthalmol Vis Sci
January 2025
Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.
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Circulation
January 2025
Pulmonary Hypertension Research Group, Québec Heart and Lung Institute Research Center, Quebec City, QC, Canada (S.-E.L., Y.G., T.Y., T.S., M.M., C.R., M.S., S.B.-B., A.B., C.T., A.P., R.E.K., S.M., K.Y., F.P., S.P., O.B., S.B.).
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