Gene Defect Found in Patients with Small-Vessel DiseaseLast Updated: April 22, 2009. A gene defect has been identified in patients with a hereditary cerebral small-vessel disease, according to a study in the April 23 issue of the New England Journal of Medicine.
WEDNESDAY, April 22 (HealthDay News) -- A gene defect has been identified in patients with a hereditary cerebral small-vessel disease, according to a study in the April 23 issue of the New England Journal of Medicine.
Kenju Hara, M.D., from Niigata University in Japan, and colleagues performed linkage analysis and fine mapping in five families with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) to find the genetic defect.
The researchers identified a region on chromosome 10q containing the candidate gene HtrA serine protease 1 (HTRA1), which contained nonsense and missense mutations. The mutations led to either protein with low activity that was unable to block signaling by members of the transforming growth factor-β (TGF-β) family, its normal function, or a lack of HTRA1 protein. Affected individuals had increased expression of a region of fibronectin and versican in the thickened tunica intima of cerebral small arteries and increased expression of TGF-β1 in the tunica media.
"CARASIL is associated with mutations in the HTRA1 gene," Hara and colleagues conclude. "Our findings indicate a link between repressed inhibition of signaling by the TGF-β family and ischemic cerebral small-vessel disease, alopecia, and spondylosis."
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