Why the study?
Are rare missense variants in TLN1 associated with familial and sporadic spontaneous coronary artery dissection?
Are rare missense variants in TLN1 associated with familial and sporadic spontaneous coronary artery dissection?
Identification of TLN1 as a disease-associated gene provides novel insights into the genetic basis and pathophysiology of spontaneous coronary artery dissection.
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TLN1 variants may inform SCAD genetic evaluation; leaves open cytoskeletal-targeted therapies pending human validation.
Our findings reveal TLN1 as a disease-associated gene in familial and sporadic SCAD and, together with abnormal vascular phenotypes reported in animal models of talin 1 disruption, implicate impaired structural integrity of the coronary artery cytoskeleton in SCAD susceptibility.
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Turley et al. (2019) studied this question.
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