In most pulmonary fibrosis (PF) cases, the cause of the disease is unknown and is refered to as idiopathic pulmonary fibrosis (IPF). But rare cases of familial pulmonary fibrosis (passed through family genetics) do occur. As a result of those rare cases, researchers are beginning to acknowledge that genetics can play an important role in the development of pulmonary fibrosis.
Genes associated with pulmonary fibrosis
According to the National Institutes of Health (NIH), about 100,000 people in the U.S. have pulmonary fibrosis. Between 30,000 and 40,000 new cases are diagnosed every year. While inherited pulmonary fibrosis cases are rare, some IPF cases are likely the result of both environmental and genetic factors. Even if the disease has not been passed down directly from one generation to another, genetic factors can still play a role.
Research has revealed that genetic alterations, particularly in genes known as TERC and TERT, may result in the development of PF. The NIH published that 15% of all cases of IPF are related to mutations in those genes. TERC and TERT are responsible for making components of telomerase, an enzyme that maintains structures at the ends of telomere chromosomes. Though the mutations have been identified, how they cause pulmonary fibrosis or lung damage remains unknown.
How is pulmonary fibrosis inherited?
In the majority of cases, PF development among multiple family members with no clear genetic cause is considered a “sporadic” event. However, familial pulmonary fibrosis is characterized by an autosomal dominant pattern of inheritance — meaning one copy of an altered gene in each cell is enough to cause the disorder. However, not everyone with an altered inherited gene will develop familial pulmonary fibrosis. Why the gene alteration affects some family members and not others is not fully understood.
“The inheritance of familial pulmonary fibrosis is not clear. Complex inheritance including autosomal dominant inheritance with reduced penetrance appears likely, though autosomal recessive inheritance remains a possibility. Prenatal diagnosis is possible for pregnancies at increased risk in families in which the TERT,TERC, SFTPC, or SFTPA2 pathogenic variant has been identified; however, the predictive value of such test results is as yet unclear,” wrote authors Janet L. Talbert and David A. Schwartz, MD, in the study “Pulmonary Fibrosis, Familial.”
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