HOME >> BIOLOGY >> NEWS
Researchers uncover a protein defect that causes a milder form of cystic fibrosis

TORONTO - Scientists at The Hospital for Sick Children have uncovered a protein defect that underlies a milder form of cystic fibrosis. This research is reported in the July issue of the scientific journal Nature Structural Biology.

This discovery builds on years of cystic fibrosis (CF) research at The Hospital for Sick Children (HSC), including the discovery of the CF gene in 1989. After the discovery of the gene, research focused on determining the function of the protein that the gene encodes. Each gene in the human genome codes for a unique protein. The gene is the molecule of information, but the protein that is then biosynthesized in the cell actually carries out the bodily function. In the case of the CF gene, the protein (named CFTR) regulates the necessary balance of sodium chloride (salt) across the cell membranes in the lungs and pancreas.

"We now have a clearer picture of why the protein doesn't function properly in the milder form of cystic fibrosis - segments of the protein are sticking together, interfering with the flow of chloride in and out of the cell," said Dr. Charles Deber, the study's principal investigator, a senior scientist in the HSC Research Institute and a professor of Biochemistry at the University of Toronto.

Cystic fibrosis is not just one distinct phenotype, as researchers have found hundreds of different mutations in the CF gene and the corresponding protein. The milder form of cystic fibrosis, also known as pancreatic sufficient CF, occurs in 10-15 per cent of CF patients. In this form of the disease, which often manifests as lung disease and male infertility, CFTR is able to carry out partial function. In the more severe forms of cystic fibrosis, the protein never assembles properly and no chloride can be transported.

"This opens the door for new avenues of research in terms of rational drug design," added Dr. Deber. "We will look for molecules that could possibly break up the abnormal bond that is
'"/>

Contact: Jennifer ten Westeneind
jennifer.ten-westeneind@sickkids.ca
416-813-5045
The Hospital for Sick Children
26-Jun-2001


Page: 1 2

Related biology news :

1. Researchers determine genetic cause of Timothy syndrome
2. Researchers find color sensitive atomic switch in bacteria
3. Researchers identify protein promoting vascular tumor growth
4. Researchers devise potent new tools to curb ivory poaching
5. Researchers create nanotubes that change colors, form nanocarpet and kill bacteria
6. Researchers ID chlorophyll-regulating gene
7. Researchers develop fast track way to discover how cells are regulated
8. Researchers identify distinctive signature for metastatic prostate cancer
9. Researchers report new gene test for isolated cleft lip and palate
10. Researchers discover why mutant gene causes colon cancer
11. Researchers identify the genomes controlling elements

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/23/2017)... N.Y. , June 23, 2017  IBM (NYSE: ... dairy research, today announced a new collaboration using next-generation ... chances that the global milk supply is impacted by ... Cornell University has become the newest academic institution to ... a food safety initiative that includes IBM Research, Mars, ...
(Date:5/23/2017)... the first robotic gym for the rehabilitation and functional motor sense evaluation ... Genoa, Italy . The first 30 robots will be available from ... . The technology was developed and patented at the IIT laboratories ... Technology thanks to a 10 million euro investment from entrepreneur Sergio Dompè. ... ...
(Date:5/16/2017)... 16, 2017   Bridge Patient Portal , ... MD EMR Systems , an electronic medical ... GE, have established a partnership to build an ... the GE Centricity™ products, including Centricity Practice Solution ... These new integrations will allow healthcare delivery ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... ... announced today that they have entered into a multiyear collaboration to identify and ... researchers with additional tools for gene editing across all applications. , Under the ...
(Date:10/12/2017)... ... , ... AMRI, a global contract research, development and manufacturing ... and quality of life, will now be offering its impurity solutions as a ... requirements for all new drug products, including the finalization of ICH M7 earlier ...
(Date:10/11/2017)... ... October 11, 2017 , ... ... in its endogenous context, enabling overexpression experiments and avoiding the use of exogenous ... RNA guides is transformative for performing systematic gain-of-function studies. , This complement ...
(Date:10/11/2017)... ... October 11, 2017 , ... Proscia Inc ., ... a Webinar titled, “Pathology is going digital. Is your lab ready?” with Dr. ... best practices and how Proscia improves lab economics and realizes an increase in ...
Breaking Biology Technology:
Cached News: