BIOLOGY 2C03 Lecture Notes - Lecture 1: Sickle-Cell Disease, Globin, Protein Aggregation
13 Mar 2018
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1904: walter noel showed severe anemia and debilitating muscle pain. Results from low numbers of red blood cells (rbc) Low rbc = less oxygen being carried to target tissues by hemoglobin which leads to fatigue. Anemia may be temporary due to disease or nutrition (e. g. low iron) Hereditary anemia associated with abnormalities in hemoglobin structure. Hemoglobin structure is the product of 2 genes: Glo(cid:271)i(cid:374) ge(cid:374)e (cid:272)odes for -globin protein (chromosome 16) Glo(cid:271)i(cid:374) ge(cid:374)es (cid:272)odes for -globin protein (chromosome 11) Scd caused by single nucleotide base pair substitution (single nucleotide polymorphism or. A = normal/wildtype allele (3)leu - thr - pro - (6)glu - glu - lys - (9)ser. S= mutant allele with one nucleotide change (3)leu - thr - pro - (6)val - glu - lys - (9)ser. Hydrophobic valine causes protein aggregation when oxygen is not bound. Sickle shape of rbc prevents their movement through capillaries and limits oxygen transport. Lifespan = 10-20 days vs normal 120 days.
