INDS 111 Lecture Notes - Lecture 22: Heteroplasmy, Lactic Acid, Cellular Respiration

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37 genes: trnas, ribosomal rnas, proteins that encode respiratory chain complexes required for cellular energy (atp) production (mostly non-protein coding genes though). Some genes for mitochondrial function are also in nucleus: mitochondria are descended from bacteria that became incorporated into the cytoplasm of eukaryotic cells and provided the advantage of cellular respiration in cells that relied on glycolysis and fermentation. 100s of mitochondria per cell, and thus 100 copies of mitochondrial dna per cell lots of area for variation. Only maternal mitochondria are transmitted to the offspring in the egg cell. Used to trace human historical migration patters and tracing the ancestry of misplaced children. Heteroplasmy- mix of normal and mutant dna. Threshold of mutant: normal dna produces disease. Combination can vary after cell division in a tissue. Combination can vary in different tissues- pleiotropy! 7 yo girl with poor growth, hearing loss and elevated blood lactate. Excess lactate indicates lack of atp production mt disorder.

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