Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.
gene therapy
genetics
genomic medicine
mutation
precision medicine
pulmonary hypertension
treatment
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
13 03 2021
13 03 2021
Historique:
received:
12
02
2021
revised:
10
03
2021
accepted:
11
03
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
20
11
2021
Statut:
epublish
Résumé
Pulmonary arterial hypertension (PAH) is a rare and chronic lung disease characterized by progressive occlusion of the small pulmonary arteries, which is associated with structural and functional alteration of the smooth muscle cells and endothelial cells within the pulmonary vasculature. Excessive vascular remodeling is, in part, responsible for high pulmonary vascular resistance and the mean pulmonary arterial pressure, increasing the transpulmonary gradient and the right ventricular "pressure overload", which may result in right ventricular (RV) dysfunction and failure. Current technological advances in multi-omics approaches, high-throughput sequencing, and computational methods have provided valuable tools in molecular profiling and led to the identification of numerous genetic variants in PAH patients. In this review, we summarized the pathogenesis, classification, and current treatments of the PAH disease. Additionally, we outlined the latest next-generation sequencing technologies and the consequences of common genetic variants underlying PAH susceptibility and disease progression. Finally, we discuss the importance of molecular genetic testing for precision medicine in PAH and the future of genomic medicines, including gene-editing technologies and gene therapies, as emerging alternative approaches to overcome genetic disorders in PAH.
Identifiants
pubmed: 33805595
pii: cells10030638
doi: 10.3390/cells10030638
pmc: PMC7999465
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL133554
Pays : United States
Organisme : NHLBI NIH HHS
ID : T32 HL007824
Pays : United States
Organisme : NIH HHS
ID : 5T32HL007824-22
Pays : United States
Organisme : NIH HHS
ID : R01 HL133554
Pays : United States
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