Gene Mutation Responsible for Lung and Diaphragm Defects

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Gene Mutation Responsible for Lung and Diaphragm Defects

17 Jun 2005 Medical News Today

To breathe normally, people need more than just healthy lungs. A

diaphragm-the large muscle that creates a vacuum to draw air into

their lungs-is also crucial. Birth defects in the diaphragm, such as

congenital diaphragmatic hernia (which are about as common as cystic

fibrosis), are often fatal. " A lot of people haven't heard of this

[disorder] because so many of the kids die early, " said Kate

Ackerman, Harvard Medical School researcher and lead author of the

study in PLoS Genetics.

To explore the genetic roots of these birth defects-hitherto a

mystery-Ackerman and her colleagues screened mice with induced

genetic mutations. The researchers discovered that a mutation in the

mouse Fog2 gene can cause small lungs and abnormal diaphragm

development. Could the same gene be involved in human diaphragmatic

defects? After studying children with similar problems, the authors

did indeed identify a child with a serious Fog2 gene mutation who

died on the first day of life with severe breathing difficulties,

small lungs, and an abnormal diaphragm.

" This is the first identified cause of [this type of] diaphragmatic

defect, " Ackerman said. " And now we have a mouse model to try to

learn more. " This discovery means that researchers now have an

important genetic starting point to generate further insight into a

poorly understood range of human disorders.

Citation: Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, et

al. (2005) Fog2 is required for normal diaphragm and lung development

in mice and humans. PLoS

Genet 1(1): e10.

http://www.plosgenetics.org