Disease

Leigh Syndrome

About the Disease
Leigh Syndrome, also known as leigh disease, is related to mitochondrial dna-associated leigh syndrome and mitochondrial complex iv deficiency, nuclear type 5, and has symptoms including ataxia, muscle spasticity and ophthalmoplegia. An important gene associated with Leigh Syndrome is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A), and among its related pathways/superpathways are Metabolism and "Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.". The drugs Cysteamine and Ubidecarenone have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, eye and brain, and related phenotypes are increased serum lactate and increased csf lactate

Common Targets
PNPT1 | ECHS1 | PDHX | MRPS34 | COX3 | SLC19A3 | ME1 | NDUFS3 | NDUFV1 | TAFAZZIN | ND1 | PTCD3 | CYTB | GTPBP3 | NDUFS4 | LRPPRC | NDUFS6 | ATP5MK | NDUFV2 | NDUFS1 | TGM2 | GFM1 | ND2 | NAXE | MTRFR | VPS13D | MIR181B1 | EPO | 15-Lipoxygenase (nonspecified subtype) | NDUFAF5 | HIBCH | NDUFAF6 | ND3 | TIMMDC1 | NOX3 | IARS2 | SQOR | NDUFAF8 | ND4 | NADPH Oxidase Complex | ATP6 | MIR181A1 | NDUFA12 | EARS2 | COX8A | NADPH Oxidase (nonspecified subtype) | PET100 | NDUFA1 | GYG2 | SDHA | SURF1 | HCAR2 | PDHA1 | BOLA3 | ND5 | ATP8 | G2475 | LIPT1 | G4780 | SCO2 | ALOX15 | COX15 | NARS2 | COX1 | ND6 | COQ4 | DNAJC30 | RNR1

疾病靶点研报
Leigh Syndrome

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