Female Smokers Susceptible To Emphysema
Female smokers in particular are susceptible to emphysema because of a mutation in a gene that helps repair damaged chromosomes, a new study has shown.
The study, conducted by the Johns Hopkins Kimmel Cancer Center, indicates that the mutations are among the few genetic factors liked to chronic obstructive pulmonary disease, including emphysema.
The alteration occurs in the telomerase reverse transcriptase gene, which helps to produce the enzyme telomerase. Telomerase repairs the protective caps at the ends of chromosomes to prevent degradation during cell division. Telomerase shorten with age and act as a cellular block in cells. Mutations in the telomerase reverse transcriptase gene lead to excessively short telomeres.
The researchers found telomerase reverse transcriptase gene mutations in three of the 292 smokers with emphysema, a disease in which the air sacs in the lungs are gradually damaged, making the person increasingly more short of breath. The scientists also studied 50 patients with syndromes linked to telomere shortening. Among 39 non-smokers, there wasn't a single case of emphysema. Among the smokers, seven of 11 patients, including six female smokers, has emphysema. The research suggests that female smokers with telomerase-related mutations may be more susceptible to emphysema.
The study was published in the Journal of Clinical Investigation.
In an earlier study, the researchers found that shortened telomeres in mice made them more susceptible to emphysema after being exposed to cigarette smoke. Connections were also noted between telomerase mutations and a hereditary lung disease called idiopathic pulmonary fibrosis.
People with emphysema often suffer from other health problems, including osteoporosis, liver disease and cancer, which are common in people with shortened telomeres as well.
Lung disease is the third-biggest cause of death in the United States. However, not everyone who smokes gets emphysema. The researchers are trying to find out why some people get it while others do not. However, young women who smoke, according to the researchers, are more likely to get emphysema.
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