Cerebral Cortex Anatomy

Abstract

Approximately 10-20% of idiopathic pulmonary fibrosis cases have a familial component, suggesting a strong genetic influence. While most cases are sporadic, familial cases provide critical insights into genetic predispositions and mechanisms. TERT and TERC mutations which encode components of telomerase, are among the most common in familial idiopathic pulmonary fibrosis. They lead to shortened telomeres and premature cellular aging. SFTPC and SFTPA2 mutations in genes encoding surfactant proteins can disrupt normal lung function and homeostasis, leading to increased fibrosis. MUC5B is a common polymorphism in the promoter region of the MUC5B gene is strongly associated with both familial and sporadicidiopathic pulmonary fibrosis. This variant increases the expression of mucin, which may contribute to aberrant wound healing and fibrosis.