Research & Development
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Study: Genetics of PAH Differs Between Children and Adults
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Study: Genetics of PAH Differs Between Children and Adults
The genetic landscape of pulmonary arterial hypertension that strikes in childhood differs from the one that develops after a person reaches adulthood, a study reports.
There is little variation between children and adults in gene mutations commonly associated with PAH, such as BMPR2. But children have more of the rarer mutations, like TBX4, researchers reported.
Their study, “Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults,” appeared in the journal Circulation: Genomic and Precision Medicine.
Scientists have identified several genes that increase the risk of a person developing PAH. While mutations have been studied in adult-onset PAH, little has been known about mutations that cause cases in children.
A research team decided to remedy this. Their study included 155 children and 257 adults with PAH who had been treated at Columbia University over 22 years.
Participants were grouped according to how their disease originated. One group consisted of patients with the inherited form — familial, or FPAH. The other consisted of those with the non-genetic form — idiopathic, or IPAH.
Read more about it here: “Genetic Landscape of PAH Differs Between Children and Adults, Study Shows“
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