A5029061394- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- ATP Synthase and ATPases Research
Fondazione IRCCS Istituto Neurologico Carlo Besta
2023
Leber’s hereditary optic neuropathy (LHON) is a disease that affects the optical nerve, causing visual loss. The diagnosis of LHON mostly defined by identification three pathogenic variants in mitochondrial DNA. Idebenone widely used to treat patients, but only some them are responders treatment. In our study, we assessed maximal respiration rate (MRR) and other respiratory parameters eight fibroblast lines from subjects carrying variants. We measured also effects idebenone treatment on cell...
Abstract Objectives Pathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present novel phenotype and review the existing literature on ‐related disorders. Methods We performed EEG recordings, brain MRI MR Spectroscopy, metabolic screening, echocardiogram, clinical exome sequencing (CES) family study. Effects variant were established cultured fibroblasts skin punch biopsy. Results The patient...