PHYS 799 Chapter Notes - Chapter 6: Chronic Myelogenous Leukemia, Fragile X Syndrome, Tumor Suppressor Gene
22 Apr 2019
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* bolded text and tables were called out as need to know or were comments added by dr. Abl genes in chronic myelogenous leukemia: epigenetic changes, promoter methylation and silencing of tumor suppressor genes - cancer, histone proteins often modified - affecting secondary/tertiary dna structure and gene transcription. Each of the variants is caused by a distinct mutation: clinical features may include fragile, hyperextensible skin vulnerable to trauma, hypermobile joints, and ruptures involving colon, cornea, or large arteries. Wound healing is poor: three common molecular bases, deficiency of enzyme lysyl hydroxylase - affect collagen type i and ii. In heterozygotes, elevated serum cholesterol greatly increases the risk of atherosclerosis and resultant coronary artery disease; homozygotes have an even greater increase in serum cholesterol and a higher frequency of ischemic heart disease. Most common mutation: cardiopulmonary complications constitute the most common cause of death; pulmonary infections, especially with resistant pseudomonads, are frequent.
