Friday, January 17, 2014

WILTIMS #96: Foundering in biochem

If you would like to keep my attention in class, never preface a statement with the phrase, "For those of you who are interested in the organic chemistry of this reaction..."

TIL: Tangier disease (also known as hypoalphalipoproteinemia) is an extremely rare autosomal recessive genetic disease caused by a defective ABCA transporter. ABCA normally transports cholesterol and phospholipids out of cells for incorporation into high density lipoproteins (HDL or "good cholesterol"). The lack of HDL in the bloodstream increases the risk for coronary artery disease meanwhile the buildup of cholesterol in tissues causes all sorts of problems depending on the tissue.

The disease gets its name (not the eleven syllable one) from Tangier Island in Chesapeake Bay, where the first few patients were discovered. This is an example of the genetics concept called the founder effect whereby an extremely rare trait from a large population is magnified once it is isolated, such as through the colonization of a previously uninhabited island. Tangier Island's first British colonists brought the diseased allele with them and when two of their great great great great great great great grandkids had children in the 1940s, the disease was finally able to rear its head.

Vascular beds can be either arborizing (tree-like) or anastomosing (interconnecting).

Cholesterol is not a precursor to vitamin D; actually they have the same precursor, but are not interconvertible.

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