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本文首先简要介绍家族性中枢神经系统海绵状血管畸形(Familial cerebral cavernous malformation,FCCM)发病特点及临床治疗,然后主要从分子遗传学的角度,介绍该病致病基因的研究进展,特别是CCM2/MGC4607和CCM3/PDCD10这两个基因的最新研究成果,从而对该疾病在分子遗传学水平的发生发展有更深入的了解。由于基因突变是本病发生的明确致病因素,可见对其深入的研究可以为病因学分子病理学以及基因诊断学奠定坚实的基础,同时为今后的临床治疗乃至基因治疗提供新的治疗方法与手段。
This article first briefly introduced the familial central nervous system cavernous malformation (Familial cerebral cavernous malformation, FCCM) incidence characteristics and clinical treatment, and then mainly from the molecular genetics point of view of the disease pathogenic genes research progress, in particular, CCM2 / MGC4607 and CCM3 / PDCD10 the latest research results of these two genes, and thus the disease at the molecular level of genetics and development have a more in-depth understanding. Because gene mutation is the clear pathogenic factor of this disease, it can be seen that its in-depth research can lay a solid foundation for etiological molecular pathology and gene diagnosis, and provide new treatment methods for future clinical treatment and even gene therapy. means.