Featured Research

from universities, journals, and other organizations

Johns Hopkins-Led Team Discovers Gene Defect Linked To Lung Disease

Date:
February 22, 2001
Source:
Johns Hopkins Medical Institutions
Summary:
Researchers at the Johns Hopkins Children's Center and Children's Hospital Medical Center of Cincinnati have discovered a genetic defect associated with lung disease in infants and adults.

Researchers at the Johns Hopkins Children's Center and Children's Hospital Medical Center of Cincinnati have discovered a genetic defect associated with lung disease in infants and adults.

Their findings, reported in this week's New England Journal of Medicine, identify a mutation in the surfactant protein C (SP-C) gene linked to interstitial lung disease (ILD), a term defining a group of chronic lung disorders.

Research teams led by Johns Hopkins neonatologist Lawrence M. Nogee, M.D., and Jeffrey A. Whitsett, M.D., of Cincinnati Children's, identified the SP-C mutation in two related individuals who did not have respiratory symptoms at birth but who subsequently developed ILD.

SP-C is one of the components of surfactant, a mixture of fats and proteins which enables the lungs to expand and contract easily with each breath, and which plays an important role in respiratory adaptation in newborns by maintaining the low surface tension needed to prevent lung collapse on exhalation. Deficiency of surfactant causes respiratory distress syndrome (RDS), a common cause of lung disease in premature infants. The newly identified mutation is a single DNA base pair error that results in a defective protein. Researchers speculate the defective protein has a toxic effect on lung metabolism, leaving infants prone to severe lung failure and collapse. The finding also suggests that while SP-C may not be critical for respiratory adaptation at birth, it is important for normal lung function.

"Very little is known about the underlying causes of interstitial lung disease," says Nogee, the report's lead author. "Our findings provide a clue as to what may trigger and perpetuate these disorders. We need to gain a better understanding of how and why some people with mutations in this gene develop this kind of lung disease. It is clear that SP-C has a critical role in the lung, and thus abnormalities in this gene and its protein may be involved in other lung diseases."

ILD accounts for approximately 15 percent of visits to lung specialists, according to the National Jewish Medical and Research Center. ILD includes a group of chronic pneumonias which may lead to scarring of the lungs, and eventually to respiratory failure.

The findings are the latest fruits of a long-standing research collaboration among the team, which has been funded by grants from the National Heart, Lung and Blood Institute, and by the Johns Hopkins Eudowood Foundation. The team has investigated the causes of lung disease in hundreds of patients around the world to gain a better understanding of the nature of lung disease.

Frederic Askin, M.D., of Johns Hopkins; Alston Dunbar, III, M.D., formerly of Johns Hopkins; Susan E. Wert, Ph.D., of Cincinnati Children's; and Aaron Hamvas, M.D., of Washington University in St. Louis, contributed to the study.


Story Source:

The above story is based on materials provided by Johns Hopkins Medical Institutions. Note: Materials may be edited for content and length.


Cite This Page:

Johns Hopkins Medical Institutions. "Johns Hopkins-Led Team Discovers Gene Defect Linked To Lung Disease." ScienceDaily. ScienceDaily, 22 February 2001. <www.sciencedaily.com/releases/2001/02/010222075458.htm>.
Johns Hopkins Medical Institutions. (2001, February 22). Johns Hopkins-Led Team Discovers Gene Defect Linked To Lung Disease. ScienceDaily. Retrieved July 24, 2014 from www.sciencedaily.com/releases/2001/02/010222075458.htm
Johns Hopkins Medical Institutions. "Johns Hopkins-Led Team Discovers Gene Defect Linked To Lung Disease." ScienceDaily. www.sciencedaily.com/releases/2001/02/010222075458.htm (accessed July 24, 2014).

Share This




More Health & Medicine News

Thursday, July 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Idaho Boy Helps Brother With Disabilities Complete Triathlon

Idaho Boy Helps Brother With Disabilities Complete Triathlon

Newsy (July 23, 2014) An 8-year-old boy helped his younger brother, who has a rare genetic condition that's confined him to a wheelchair, finish a triathlon. Video provided by Newsy
Powered by NewsLook.com
Thousands Who Can't Afford Medical Care Flock to Free US Clinic

Thousands Who Can't Afford Medical Care Flock to Free US Clinic

AFP (July 23, 2014) America may be the world’s richest country, but in terms of healthcare, the World Health Organisation ranks it 37th. Thousands turned out for a free clinic run by "Remote Area Medical" with a visit from the Governor of Virginia. Duration: 2:40 Video provided by AFP
Powered by NewsLook.com
Stone Fruit Listeria Scare Causes Sweeping Recall

Stone Fruit Listeria Scare Causes Sweeping Recall

Newsy (July 22, 2014) The Wawona Packing Company has issued a voluntary recall on the stone fruit it distributes due to a possible Listeria outbreak. Video provided by Newsy
Powered by NewsLook.com
Huge Schizophrenia Study Finds Dozens Of New Genetic Causes

Huge Schizophrenia Study Finds Dozens Of New Genetic Causes

Newsy (July 22, 2014) The 83 new genetic markers could open dozens of new avenues for schizophrenia treatment research. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins