Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

N Gregersen, P Bross, M M Jørgensen, T J Corydon, B S Andresen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review


Many disease-causing point mutations do not seriously compromise synthesis of the affected polypeptide but rather exert their effects by impairing subsequent protein folding or stability of the folded protein. This often results in rapid degradation of the affected protein. The concepts of such 'conformational disease' are illustrated by reference to cystic fibrosis, phenylketonuria and short-chain acyl-CoA dehydrogenase deficiency. Other cellular components such as chaperones and proteases, as well as environmental factors, may combine to modulate the phenotype of such disorders and this may open up new therapeutic approaches.

TidsskriftJournal of Inherited Metabolic Disease
Udgave nummer5
Sider (fra-til)441-7
Antal sider7
StatusUdgivet - jul. 2000