POINT to PONDER: DEFECTS IN GLYCOSOLATION....Harpers Biochemistry Ch 46, Dr Robert Murray This was my 1st entry into how the function of monosacharides can be considered as CRUCIAL in health. NOW?....consider this: Genetic defects in the human glycome Hudson H. Freeze Abstract The spectrum of all glycan structures — the glycome — is immense. In humans, its size is orders of magnitude greater than the number of proteins that are encoded by the genome, one percent of which encodes proteins that make, modify, localize or bind sugar chains, which are known as glycans. In the past decade, over 30 genetic diseases have been identified that alter glycan synthesis and structure, and ultimately the function of nearly all organ systems. Many of the causal mutations affect key biosynthetic enzymes, but more recent discoveries point to defects in chaperones and Golgi-trafficking complexes that impair several glycosylation pathways. As more glycosylation disorders and patients with these disorders are identified, the functions of the glycome are starting to be revealed.
Posted on: Thu, 20 Nov 2014 17:01:04 +0000
Trending Topics
Recently Viewed Topics
© 2015