Defective gene linked to a group of lung disorders

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Defective gene linked to a group of lung disorders

By Merritt McKinney

NEW YORK, Feb 23 (Reuters Health) - Scientists have identified a genetic

defect that may be involved in a type of chronic lung disease.

Interstitial lung disease is a blanket term for more than 100 types of

chronic lung disorders, according to Dr. Lawrence M. Nogee, of s Hopkins

University in Baltimore, land. Trying to understand the root causes of

interstitial lung disease has been frustrating, he told Reuters Health in an

interview.

One theory is that the disease occurs when the lungs cannot recover after

they are injured in some way, perhaps by an infection, Nogee said.

Now, he and his colleagues report on a mother and child with interstitial

lung disease who both had a mutation in the gene for a protein called

surfactant protein C, or SP-C. This protein is essential for the production

of a normal surfactant, the fatty substance that lines the lungs and keeps

them from collapsing.

The mother and child with the defective SP-C gene were able to breathe

normally when they were born, but they both later developed interstitial

lung disease, Nogee and his colleagues report in the February 22nd issue of

The New England Journal of Medicine.

" There is a mutation in the gene that encodes SP-C that seems to be the

cause of the interstitial lung disease in this family, " Nogee said in the

interview.

The research represents " a new sort of way of looking at this lung disease, "

he added. " It give us a clue to what some of the mechanism is for

interstitial lung disease. "

The finding may also help researchers better understand other types of lung

disease, according to Nogee. The fact that the woman and child did not have

any breathing troubles at birth suggests that SP-C is not essential to the

lungs immediately after birth, the researchers point out in the report.

However, the protein appears to later become critical for normal lung

function, they note.

So, according to Nogee, it may be possible that other lung diseases stem

from malfunctioning SP-C. These problems could result from genetic or other

causes, he said.

SOURCE: The New England Journal of Medicine 2001;344