Levy E, Carman M D, Fernandez-Madrid I J, Power M D, Lieberburg I, van Duinen S G, Bots G T, Luyendijk W, Frangione B
Department of Pathology, New York University Medical Center, NY 10016.
Science. 1990 Jun 1;248(4959):1124-6. doi: 10.1126/science.2111584.
An amyloid protein that precipitates in the cerebral vessel walls of Dutch patients with hereditary cerebral hemorrhage with amyloidosis is similar to the amyloid protein in vessel walls and senile plaques in brains of patients with Alzheimer's disease, Down syndrome, and sporadic cerebral amyloid angiopathy. Cloning and sequencing of the two exons that encode the amyloid protein from two patients with this amyloidosis revealed a cytosine-to-guanine transversion, a mutation that caused a single amino acid substitution (glutamine instead of glutamic acid) at position 22 of the amyloid protein. The mutation may account for the deposition of this amyloid protein in the cerebral vessel walls of these patients, leading to cerebral hemorrhages and premature death.
在患有遗传性脑出血伴淀粉样变性的荷兰患者脑血管壁中沉淀的一种淀粉样蛋白，类似于阿尔茨海默病、唐氏综合征和散发性脑淀粉样血管病患者大脑血管壁和老年斑中的淀粉样蛋白。对两名患有这种淀粉样变性的患者编码淀粉样蛋白的两个外显子进行克隆和测序，发现了一个胞嘧啶到鸟嘌呤的颠换，该突变导致淀粉样蛋白第22位出现单个氨基酸替换（谷氨酰胺而非谷氨酸）。该突变可能是这些患者脑血管壁中这种淀粉样蛋白沉积的原因，进而导致脑出血和过早死亡。
