History
The Norwegian physician Dr C. Müller first associated the physical signs, high cholesterol levels and autosomal dominant inheritance in 1938. In the early 1970s and 1980s, the genetic cause for FH was described by Dr Joseph L. Goldstein and Dr Michael S. Brown of Dallas, Texas. Initially, they found increased activity of HMG-CoA reductase, but studies showed that this did not explain the very abnormal cholesterol levels in FH patients. The focus shifted to the binding of LDL to its receptor, and effects of impaired binding on metabolism; this proved to be the underlying mechanism for FH. Subsequently numerous mutations in the protein were directly identified by sequencing. They later won the 1985 Nobel Prize in Medicine for their discovery of the LDL receptor and its impact on lipoprotein metabolism.
Read more about this topic: Familial Hypercholesterolemia
Famous quotes containing the word history:
“Hence poetry is something more philosophic and of graver import than history, since its statements are rather of the nature of universals, whereas those of history are singulars.”
—Aristotle (384–322 B.C.)
“... the history of the race, from infancy through its stages of barbarism, heathenism, civilization, and Christianity, is a process of suffering, as the lower principles of humanity are gradually subjected to the higher.”
—Catherine E. Beecher (1800–1878)
“Books of natural history aim commonly to be hasty schedules, or inventories of God’s property, by some clerk. They do not in the least teach the divine view of nature, but the popular view, or rather the popular method of studying nature, and make haste to conduct the persevering pupil only into that dilemma where the professors always dwell.”
—Henry David Thoreau (1817–1862)