Genetic Link to Lung Disease
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Genetic Link to Lung Disease

LONDON -- August 29, 1997 -- A possible genetic link to chronic obstructive pulmonary disease (COPD) and emphysema is reported by Dr Christopher Smith and Dr David Harrison, from Southampton, UK, in The Lancet.

Lungs are constantly under stress from substances, such as cigarrette smoke and solvents (known as oxidants), in the environment that cause the generation of reactive molecules (oxidation) in cells. These oxidative molecules can cause cell and tissue damage if they are not broken down quickly. The liver usually breaks down these harmful oxidants with the enzyme microsomal epoxide hydrolase (mEPHX), of which there are two genetic forms (polymorphisms) that confer slow and fast enzyme activity.

The investigators found out which polymorphism of the gene for the mEPHX enzyme occurred in 203 blood donors (controls), 57 people with asthma, 50 people with lung cancer, 68 people with COPD (irreversible air-flow limitation of the lungs), and 94 people with emphysema (enlarged air spaces in the lung with destruction of lung cells).

People with COPD and emphysema were much more likely than were controls to carry the gene that leads to slow activity of the enzyme. No differences between controls and the lung cancer or asthma groups were found.

These findings, the investigators say, suggest that "highly reactive epoxide intermediates may have a role in the initiation and progression of the characteristic tissue abnormalities seen in emphysema" and that the polymorphisms may help to explain individual susceptibility to oxidant-related lung disease. The authors also implicate epoxide derivatives of cigarette smoke as a possible cause of some of the lung damage characteristic of COPD and emphysema.

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