PCB 3063 Lecture Notes - Lecture 10: Leigh Disease, Mitochondrial Disease, Heteroplasmy
17 Dec 2018
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But which plasmid ends up where is random, which is called heteroplasmy. In leigh disease specifically, its closer to 1:40,000 worldwide and 1:2000 in. About 25% of leigh disease is caused by maternal mitochondrial inheritance. Those are defects or mutations in the actual mitochondria. Mitochondria only have 37 genes in the genome, so a lot of things the mitochondria need to function actually come from nuclear dna: most of the mutations are in complex 4 of the cell respiration chain. In leigh disease, it"s usually due to a mutation in cytochrome c oxidase: they have less atp and less energy for cells. The tissues where mitochondria are defective rely on glycolysis for energy, leading to cellular necrosis and death. It must be a deficiency in the bioenergetic function in the organelle: must have a mutation in one or more mitochondrial genes, 1/5000 people either have or at risk of developing mitochondrial disease.
