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2014 ; 46
(8
): 597-606
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Molecular basis and genetic predisposition to intracranial aneurysm
#MMPMID25117779
Tromp G
; Weinsheimer S
; Ronkainen A
; Kuivaniemi H
Ann Med
2014[Dec]; 46
(8
): 597-606
PMID25117779
show ga
Intracranial aneurysms, also called cerebral aneurysms, are dilatations in the
arteries that supply blood to the brain. Rupture of an intracranial aneurysm
leads to a subarachnoid hemorrhage, which is fatal in about 50% of the cases.
Intracranial aneurysms can be repaired surgically or endovascularly, or by
combining these two treatment modalities. They are relatively common with an
estimated prevalence of unruptured aneurysms of 2%-6% in the adult population,
and are considered a complex disease with both genetic and environmental risk
factors. Known risk factors include smoking, hypertension, increasing age, and
positive family history for intracranial aneurysms. Identifying the molecular
mechanisms underlying the pathogenesis of intracranial aneurysms is complex.
Genome-wide approaches such as DNA linkage and genetic association studies, as
well as microarray-based mRNA expression studies, provide unbiased approaches to
identify genetic risk factors and dissecting the molecular pathobiology of
intracranial aneurysms. The ultimate goal of these studies is to use the
information in clinical practice to predict an individual's risk for developing
an aneurysm or monitor its growth or rupture risk. Another important goal is to
design new therapies based on the information on mechanisms of disease processes
to prevent the development or halt the progression of intracranial aneurysms.