LIFESCI 2G03 Lecture Notes - Lecture 9: Wild Type, Inner Membrane, Meiosis
23 Mar 2018
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Document Summary
Left ventricular wall thickness (1. 8 cm) on echocardiogram. A homoplasmic mitochondrial dna mutation (a4300g) was found in the mt-ti gene. A4300g tells you about the position of the mutation. Which is known to cause maternally inherited hcm. Unlike other mitochondrial mutations which are known to have phenotypic variability, this mutation is currently believed to cause isolated hcm. Thickness affects ability of heart muscle to overall contract. Positive for a4300g mutation in mt-ti = a gene in the mitochondrial genome rather than the nuclear genome. The genedx 18 gene hcm panel detects mutations in over 60% of patients with a clinical diagnosis of hypertrophic cardiomyopathy. We don"t know if we"re hitting all the genes affected with this test (might not be just mitochondrial genes that are affected) Smaller genome than nuclear dna (easier to identify) Inner membrane has folds? that creates large surface area for generation of atp. You only get it from your mom, not from your dad.
