Featured Research

from universities, journals, and other organizations

Gene For Deadly Inherited Lung Disease Identified

Date:
June 7, 2009
Source:
Baylor College of Medicine
Summary:
A rare, deadly developmental disorder of the lungs called alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) that usually kills the infants born with it within the first month of life results from deletions or mutations in the FOXF1 transcription factor gene, said a consortium of researchers.

A rare, deadly developmental disorder of the lungs called alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) that usually kills the infants born with it within the first month of life results from deletions or mutations in the FOXF1 transcription factor gene, said a consortium of researchers led by Baylor College of Medicine in a report that appears in the American Journal of Human Genetics.

Related Articles


"There is no question that these data are convincing," said Dr. Pawel Stankiewicz assistant professor of molecular and human genetics at BCM. "This is the gene responsible for 30 to 40 percent of alveolar capillary dysplasia with misalignment of pulmonary veins cases. It is involved in angiogenesis (formation of new blood vessel) and lung development." He is first author on the paper.

He credited Dr. Claire Langston, distinguished service professor emeritus of pathology and pediatrics at BCM, with making the study possible because of her long-term interest in the disease. Dr. Partha Sen, assistant professor of pediatrics – nutrition at BCM, was instrumental in collecting unique samples from 25 families whose children were born with the disease for more than a decade.

Finding the gene may make it easier to diagnose the problem in children born with the disorder and to counsel families about the risk of the disease in future children, Stankiewicz said.

The disorder is rare with fewer than 200 cases reported worldwide. The study based at BCM seeks to test blood and tissue from infants born with the disorder and their parents to find the cause and develop a test for the disease.

Generally, infants born with the disease have defects in the normal air-blood diffusion barrier in their lungs. They usually become critically ill soon after birth and they respond poorly to standard treatments used to help children who have lung or breathing problems at birth. Most die soon after birth.

Others who took part in the study include Sen, another first author, and Dr. Charles Shaw-Smith, a senior author from the Wellcome Trust Sanger Institute in Cambridge, the United Kingdom.

Other institutions involved include Addenbrooke's Hospital in Cambridge, UK. Signature Genomic Laboratories, LLC, in Spokane, Washington; The University of Florida College of Medicine in Gainesville; Miami Children's Hospital; Children's Hospital of Philadelphia, Pennsylvania; McMaster University in Hamilton, Ontario, Canada; and the University of Washington in Seattle.

Funding for this work came from the Polish Ministry of Science and Higher Education, the National Association of Rare Disorders, the Wellcome Trust, the National Institute for Health Research in the United Kingdom, the Addenbrooke's Charitable Trust, Trachea-Oesophageal Fistula Support ( a United Kingdom patient support group) and the Alveolar Capillary Dysplasia Association.


Story Source:

The above story is based on materials provided by Baylor College of Medicine. Note: Materials may be edited for content and length.


Cite This Page:

Baylor College of Medicine. "Gene For Deadly Inherited Lung Disease Identified." ScienceDaily. ScienceDaily, 7 June 2009. <www.sciencedaily.com/releases/2009/06/090604124019.htm>.
Baylor College of Medicine. (2009, June 7). Gene For Deadly Inherited Lung Disease Identified. ScienceDaily. Retrieved January 28, 2015 from www.sciencedaily.com/releases/2009/06/090604124019.htm
Baylor College of Medicine. "Gene For Deadly Inherited Lung Disease Identified." ScienceDaily. www.sciencedaily.com/releases/2009/06/090604124019.htm (accessed January 28, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Wednesday, January 28, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Shark Bite Victim Making Amazing Recovery

Shark Bite Victim Making Amazing Recovery

AP (Jan. 27, 2015) A Texas woman who lost more than five pounds of flesh to a shark in the Bahamas earlier this month could be released from a Florida hospital soon. Experts believe she was bitten by a bull shark while snorkeling. (Jan. 27) Video provided by AP
Powered by NewsLook.com
Ebola Mistakes Should Serve a Lesson Says WHO

Ebola Mistakes Should Serve a Lesson Says WHO

AFP (Jan. 25, 2015) The World Health Organization&apos;s chief on Sunday admitted the UN agency had been caught napping on Ebola, saying it should serve a lesson to avoid similar mistakes in future. Duration: 00:55 Video provided by AFP
Powered by NewsLook.com
Disneyland Measles Outbreak Spreads To 5 States

Disneyland Measles Outbreak Spreads To 5 States

Newsy (Jan. 24, 2015) Much of the Disneyland measles outbreak is being blamed on the anti-vaccination movement. The CDC encourages just about everyone get immunized. Video provided by Newsy
Powered by NewsLook.com
Growing Measles Outbreak Worries Calif. Parents

Growing Measles Outbreak Worries Calif. Parents

AP (Jan. 23, 2015) Public health officials are rushing to contain a measles outbreak that has sickened 70 people across 6 states and Mexico. The AP&apos;s Raquel Maria Dillon has more. (Jan. 23) Video provided by AP
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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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