BGEN 3020 Lecture Notes - Lecture 30: Hematopoietic Stem Cell Transplantation, Myelin, Mitochondrial Disease

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Any step in the carbohydrate metabolism can be affected. Loss of enzymes that degrade molecules in the lysosome. Cause accumulation in lysosomes and other compartments. Tay-sachs: hexosaminidase degrades ganglioside gm2: severe, lacking an enzymes = all substrates build up, progressive, building up substrate in and around the lysosome. Energy production in the cell (oxidative phosphorylation etc. : need mitochondria to produce energy for the cells to carry out necessary functions. 600 proteins in the mitochondrion: mostly from the nuclear genome (13 from the mitochondrial genome, mutations in nuclear or mitochondrial genes can cause malfunction of the mitochondria in some way. Syndrome of hypotonia, seizures, cardiac, respiratory defects. Atp synthase subunits locus heterogeneity mutations in multiple genes can cause the same disease: disease looks the same no matter which mutation it comes from, 25% mitochondrial inheritance, 75% autosomal recessive or x-linked recessive.

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