Due to a gene mutation called telomerase reverse transcriptase (TERT), researchers from Johns Hopkins Kimmel Cancer Center have found that females may be more susceptible to emphysema than men.
According to research published in the Journal of Clinical Investigation, of the 292 smokers studied for the mutation, “3 participants were identified to have the telomerase reverse transcriptase (TERT) gene mutation”. The mutation reduces the life of telomeres, which have the ability to repair the ends of chromosomes from degradation during cell division. This reduction results in telomere life shortening and higher risk for emphysema in those with the mutation.
To compare, the researchers also studied 50 Johns Hopkins patients who displayed symptoms of telomere shortening. Their findings indicated that of the “39 nonsmokers in that group, there were no cases of emphysema. There were 11 patients who were nonsmokers, including 6 females – all 6 females and one other patient all had emphysema. The researchers believe this suggests that female smokers with telomerase related mutations might be more susceptible to emphysema”.
“If we know that they have a telomerase mutation, it may help us take care of them in a more sophisticated way and delay the onset of those diseases” said study leader Mary Armanios, MD. Armanios also noted that a genetic history of lung diseases may also be a factor, along with age, and those women with any or all of these symptoms may be likely to have the mutation.