Printer Friendly

Defect in cystic fibrosis protein found.

Biochemists studying a specific genetic mutation that causes most cases of cystic fibrosis have come up with a new lead in understanding the disease.

Peter L. Pedersen and his colleagues at the Johns Hopkins University School of Medicine in Baltimore have found that the mutation leads to the deletion of a crucial amino acid from the protein involved in the disease. The protein, cystic fibrosis transmembrane conductance regulator (CFTR), usually helps cells maintain normal levels of chloride. But Pedersen's group found that when the protein lacks this amino acid, it doesn't fold into its correct shape and loses its function. The mucus buildup of cystic fibrosis results. The researchers report their finding in the March 25 JOURNAL OF BIOLOGICAL CHEMISTRY.

Scientists first discovered the CFTR gene more than two years ago (SN: 9/2/89, p.149). Further studies indicated that mutations in the CFTR gene lead to defective CFTR proteins that cannot move from the interior of a cell, where they are made, to their places in the cell's outer membrane (SN: 11/24/90, p.324).

Pedersen's group confirmed that mutant CFTR proteins have a three-dimensional shape that differs from normal CFTR proteins. They also showed that this altered shape prevents the mutant proteins from binding to ATP, the molecule that usually provides them with chemical fuel.

Pedersen says his group's finding suggests that structure-correcting proteins called "chaperonins" offer promise as drugs to straighten out the CFTR defects behind cystic fibrosis. Chaperonins play a natural role in reshaping mutant proteins and in keeping newly made proteins from tangling.
COPYRIGHT 1992 Science Service, Inc.
No portion of this article can be reproduced without the express written permission from the copyright holder.
Copyright 1992, Gale Group. All rights reserved. Gale Group is a Thomson Corporation Company.

Article Details
Printer friendly Cite/link Email Feedback
Title Annotation:transmembrane conductance regulator
Publication:Science News
Article Type:Brief Article
Date:Apr 4, 1992
Previous Article:Enzyme dissolves cystic fibrosis phlegm.
Next Article:The relaxed style of western quakes.

Related Articles
CF screen: still too soon.
Cystic fibrosis flaw reversed in vitro.
Cystic fibrosis gene: too many mutants.
Cystic fibrosis treatments promising.
CF gene therapy on horizon.
Gene therapy for cystic fibrosis patients.
Gene, biochemical fixes sought for CF.
PED5 Edema, hypoproteinemia, and acrodermatitis enteropathica: An uncommon initial presentation of cystic fibrosis. (Pediatrics and Adolescent...
The persistent problem of cystic fibrosis: why are people with this disease plagued by lung infections?
Mycobacterium abscessus and other nontuberculous mycobacteria: evolving respiratory pathogens in cystic fibrosis: a case report and review.

Terms of use | Copyright © 2016 Farlex, Inc. | Feedback | For webmasters