Leber hereditary optic atrophy (LHON) [DS:H00068] is an ophthalmological disorder, characterized by acute or subacute bilateral optic atrophy that results in the loss of central vision. LHON is generally considered a mitochondrial, i.e. maternally inherited disease. Recently, autosomal recessive Leber-like hereditary optic neuropathy (LHONAR) has been described. It is caused by mutations in the nuclear encoded gene DNAJC30. The DNAJC30 protein is a chaperone protein of the mitochondrial complex I interacting with complex V to promote ATP synthesis, and is mainly expressed in neurons. It has been reported that mutations in NDUFS2 also cause LHONAR. NDUFS2 encodes a core subunit of complex I.
Kieninger S, Xiao T, Weisschuh N, Kohl S, Ruther K, Kroisel PM, Brockmann T, Knappe S, Kellner U, Lagreze W, Mazzola P, Haack TB, Wissinger B, Tonagel F
タイトル
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
Gerber S, Ding MG, Gerard X, Zwicker K, Zanlonghi X, Rio M, Serre V, Hanein S, Munnich A, Rotig A, Bianchi L, Amati-Bonneau P, Elpeleg O, Kaplan J, Brandt U, Rozet JM
タイトル
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.
