Identifying Potential Mutations Responsible for Cases of Pulmonary Arterial Hypertension

Pulmonary Arterial Hypertension (PAH) is a progressive and devastating disease for which there is an escalating body of genetic and related pathophysiological information on disease pathobiology. Nevertheless, the success to date in identifying susceptibility genes, genetic variants and epigenetic p...

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Bibliographic Details
Published in:Application of clinical genetics 2021-01, Vol.14, p.113-124
Main Authors: Egom, Emmanuel Eroume-A, Moyou-Somo, Roger, Essame Oyono, Jean Louis, Kamgang, Rene
Format: Article
Language:English
Subjects:
Apoptosis
bmpr2
bone morphogenetic protein receptor type 2
Bone morphogenetic protein receptor type II
Bone morphogenetic proteins
Cell growth
Clinical medicine
Disease susceptibility
Epigenetics
Females
Genes
Genetic aspects
Genetic diversity
Health risk assessment
Hypertension
Mutation
mutations
Nitric oxide
pah
Potassium
Proteins
pulmonary arterial hypertension
Pulmonary arteries
Pulmonary hypertension
Review
Risk assessment
Signal transduction
Smooth muscle
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Summary:Pulmonary Arterial Hypertension (PAH) is a progressive and devastating disease for which there is an escalating body of genetic and related pathophysiological information on disease pathobiology. Nevertheless, the success to date in identifying susceptibility genes, genetic variants and epigenetic processes has been limited due to PAH clinical multi-faceted variations. A number of germline gene candidates have been proposed but demonstrating consistently the association with PAH has been problematic, at least partly due to the reduced penetrance and variable expressivity. Although the data for bone morphogenetic protein receptor type 2 (BMPR2) and related genes remains undoubtedly the most extensive, recent advanced gene sequencing technologies have facilitated the discovery of further gene candidates with mutations among those with and without familial forms of PAH. An in depth understanding of the multitude of biologic variations associated with PAH may provide novel opportunities for therapeutic intervention in the coming years. This knowledge will irrevocably provide the opportunity for improved patient and family counseling as well as improved PAH diagnosis, risk assessment, and personalized treatment.
ISSN:1178-704X
1178-704X
DOI:10.2147/TACG.S260755