Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the
focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) …

The retina is an exquisite target for defects of oxidative phosphorylation (OXPHOS)
associated with mitochondrial impairment. Retinal involvement occurs in two ways, retinal …

DddA-derived cytosine base editors (DdCBEs) use programmable DNA-binding TALE
repeat arrays, rather than CRISPR proteins, a split double-stranded DNA cytidine …

Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …

Leber hereditary optic neuropathy (LHON) is currently estimated as the most frequent
mitochondrial disease (1 in 27,000–45,000). Its molecular pathogenesis and natural history …

Options for the effective treatment of hereditary optic neuropathies have been a long time
coming. The successful launch of the antioxidant idebenone for Leber's Hereditary Optic …

Idebenone (Raxone®), a short-chain benzoquinone, is the only disease-specific drug
approved to treat visual impairment in adolescents and adults with Leber's hereditary optic …

Approximately one-quarter of the variation in lifespan in developed countries can be
attributed to genetic factors. However, even large population based studies investigating …

Because of their high-energy metabolism, neurons are strictly dependent on mitochondria,
which generate cellular ATP through oxidative phosphorylation. The mitochondrial genome …

Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease
that specifically targets the retinal ganglion cells by reducing their ability to produce enough …