The Genetic and Epigenetic Footprint in Idiopathic Pulmonary Fibrosis and Familial Pulmonary Fibrosis: A State-of-the-Art Review
Articolo
Data di Pubblicazione:
2022
Citazione:
The Genetic and Epigenetic Footprint in Idiopathic Pulmonary Fibrosis and Familial Pulmonary Fibrosis: A State-of-the-Art Review / C. Tirelli, C. Pesenti, M. Miozzo, M. Mondoni, L. Fontana, S. Centanni. - In: DIAGNOSTICS. - ISSN 2075-4418. - 12:12(2022), pp. 3107.1-3107.20. [10.3390/diagnostics12123107]
Abstract:
Idiopathic pulmonary fibrosis (IPF) is a rare disease of the lung with a largely unknown
etiology and a poor prognosis. Intriguingly, forms of familial pulmonary fibrosis (FPF) have long
been known and linked to specific genetic mutations. There is little evidence of the possible role of
genetics in the etiology of sporadic IPF. We carried out a non-systematic, narrative literature review
aimed at describing the main known genetic and epigenetic mechanisms that are involved in the
pathogenesis and prognosis of IPF and FPF. In this review, we highlighted the mutations in classical
genes associated with FPF, including those encoding for telomerases (TERT, TERC, PARN, RTEL1),
which are also found in about 10–20% of cases of sporadic IPF. In addition to the Mendelian forms,
mutations in the genes encoding for the surfactant proteins (SFTPC, SFTPA1, SFTPA2, ABCA3) and
polymorphisms of genes for the mucin MUC5B and the Toll-interacting protein TOLLIP are other
pathways favoring the fibrogenesis that have been thoroughly explored. Moreover, great attention has
been paid to the main epigenetic alterations (DNA methylation, histone modification and non-coding
RNA gene silencing) that are emerging to play a role in fibrogenesis. Finally, a gaze on the shared
mechanisms between cancer and fibrogenesis, and future perspectives on the genetics of pulmonary
fibrosis have been analyzed.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
idiopathic pulmonary fibrosis; familial pulmonary fibrosis; genetic; epigenetic; MUC5B; telomere; telomerase; surfactant; ABCA3; therapy
Elenco autori:
C. Tirelli, C. Pesenti, M. Miozzo, M. Mondoni, L. Fontana, S. Centanni
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