Tag Archives: lung disease

Hereditary lung diseases linked to gene mutations

Genes could be one of the reasons behind fatal lung diseases. John Hopkins scientists have been able to find out the genes which may be the reason behind hereditary lung diseases. In order to arrive at the conclusion the researchers screened DNA samples of people having inherited IPF and found out that around eighty percent of them were having mutations in the genes which could lead to an enzyme which can help in lengthening the fragile ends of the chromosome. Mutations in the case of telomerase lead to the wear and tear of chromosome ends and ultimately lead to death of the cell. Mary Armanios, M.D., Johns Hopkins Kimmel Cancer Center stated: The scientists’ first hint that telomerase plays a role in IPF came from studying the genetic traits of a family with a rare, premature-aging disorder caused by short telomeres. Many of the family members were suffering from the disorder’s second-leading cause of death — pulmonary fibrosis. We thought that perhaps there might be a link between telomerase mutations and IPF. Though there are no genes tests as of now for IPF but researchers are looking for ways for assessing the risks by undertaking screening of telomere length. Via sciencedaily