Mitochondrial diseases

GS Gorman, PF Chinnery, S DiMauro… - Nature reviews Disease …, 2016 - nature.com
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …

[HTML][HTML] Mitochondrial optic neuropathies–disease mechanisms and therapeutic strategies

P Yu-Wai-Man, PG Griffiths, PF Chinnery - Progress in retinal and eye …, 2011 - Elsevier
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies in the general population. Both disorders …

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy

SL Stenton, NL Sheremet, CB Catarino… - The Journal of …, 2021 - Am Soc Clin Investig
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 …

Real-world clinical experience with idebenone in the treatment of Leber hereditary optic neuropathy

CB Catarino, B von Livonius, C Priglinger… - Journal of Neuro …, 2020 - journals.lww.com
Background: Leber hereditary optic neuropathy (LHON) leads to bilateral central vision loss.
In a clinical trial setting, idebenone has been shown to be safe and to provide a trend toward …

Mitochondrial genetics

PF Chinnery, G Hudson - British medical bulletin, 2013 - academic.oup.com
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 epidemiology of Leber hereditary optic neuropathy in the North East of England

PYW Man, PG Griffiths, DT Brown, N Howell… - The American Journal of …, 2003 - cell.com
We performed the first population-based clinical and molecular genetic study of Leber
hereditary optic neuropathy (LHON) in a population of 2,173,800 individuals in the North …

Leber hereditary optic neuropathy

PYW Man, DM Turnbull, PF Chinnery - Journal of medical genetics, 2002 - jmg.bmj.com
Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that
preferentially causes blindness in young adult males, affecting about 1 in 25 000 of the …

Oxidative stress: a suitable therapeutic target for optic nerve diseases?

F Buonfiglio, EW Böhm, N Pfeiffer, A Gericke - Antioxidants, 2023 - mdpi.com
Optic nerve disorders encompass a wide spectrum of conditions characterized by the loss of
retinal ganglion cells (RGCs) and subsequent degeneration of the optic nerve. The etiology …

Inherited mitochondrial optic neuropathies

P Yu-Wai-Man, PG Griffiths, G Hudson… - Journal of medical …, 2009 - jmg.bmj.com
Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are
the two most common inherited optic neuropathies and they result in significant visual …

Gene–environment interactions in Leber hereditary optic neuropathy

MA Kirkman, P Yu-Wai-Man, A Korsten, M Leonhardt… - Brain, 2009 - academic.oup.com
Leber hereditary optic neuropathy (LHON) is a genetic disorder primarily due to mutations of
mitochondrial DNA (mtDNA). Environmental factors are thought to precipitate the visual …