Predictive modeling of novel gene mutations in left ventricular noncompaction cardiomyopathy: In silico analyses and future directions

Ferreira, André Fialho

Publication

Predictive modeling of novel gene mutations in left ventricular noncompaction cardiomyopathy: In silico analyses and future directions

2025-04-28Master thesis

datacite.subject.fos	Ciências Médicas::Outras Ciências Médicas
dc.contributor.advisor	Bragança, José
dc.contributor.author	Ferreira, André Fialho
dc.date.accessioned	2025-08-27T13:37:30Z
dc.date.available	2025-08-27T13:37:30Z
dc.date.issued	2025-04-28
dc.description.abstract	Left ventricular noncompaction (LVNC) is a heterogeneous cardiomyopathy characterized by a prominent trabecular meshwork in the left ventricle. The diagnosis of LVNC is primarily based on imaging techniques, such as echocardiography and cardiac magnetic resonance imaging (CMR). The genetic basis of LVNC is complex and is associated with mutations in several genes encoding sarcomeric, cytoskeletal, and other proteins. This research project focused on the bioinformatic analysis of mutations in eight genes encoding for—PTPRB, SCN10A, ZSCAN10, ABHD5, ADM, GLMN, PNMT, and NOTCH3 proteins that were identified in LVNC patients. These proteins are involved in various cellular processes, including cell signaling, vascular development, lipid metabolism, and transcriptional regulation. The mutations were analyzed using multiple computational tools, including PolyPhen-2, SIFT, MutationTaster, AlphaFold, ChimeraX and Align-GVGD, to predict their potential impact on protein function and structure. The results of the analysis revealed varying predictions, with some mutations classified as "Probably Damaging" and others as "Benign" or "Tolerated." These findings highlight the challenges of predicting the pathogenicity of mutations and the need for experimental validation to confirm their functional impact. This study contributes to the understanding of the genetic basis of LVNC and provides a foundation for future research aimed at developing more accurate diagnostic tools and targeted therapeutic strategies.	eng
dc.identifier.tid	203950003
dc.identifier.uri	http://hdl.handle.net/10400.1/27605
dc.language.iso	eng
dc.rights.uri	http://creativecommons.org/licenses/by/4.0/
dc.subject	Left ventricular noncompaction
dc.subject	Cardiomyopathy
dc.subject	Genetic mutations
dc.subject	Computational analysis
dc.title	Predictive modeling of novel gene mutations in left ventricular noncompaction cardiomyopathy: In silico analyses and future directions	eng
dc.type	master thesis
dspace.entity.type	Publication
thesis.degree.grantor	Universidade do Algarve. Faculdade de Medicina e Ciências Biomédicas
thesis.degree.level	Mestre
thesis.degree.name	Mestrado de Ciências Biomédicas