鑑定引起罕見神經退行性疾病和神經肌肉疾病的新基因突變

歷經超過四年的研究,陳浩然教授及其團隊發現了一種新的基因突變,該突變可導致脊髓小腦萎縮癥(SCA)的出現。陳教授等通過對患者親屬及其兒女的基因測序和生物信息學分析,將導致患者發生遺傳性SCA基因突變的可能性,確定在CCDC88C的卷曲螺旋結構領域基因88C(CCDC88C)內,這種基因突變的攜帶者將會出現SCA40的病癥。這種新發現的SCA分型,被“人類基因組基因命名委員會”確認,並命名為 “SCA40”型。相關硏究發表在著名的“Journal of Medical Genetics”期刊上。該研究促進了來自波蘭的相同病例的鑑定。鑒定新基因突變,能夠擴闊人類對SCA潛在原因的學術理解,並為患者提供了基因檢測和諮詢服務的機會,同時它還闡明了SCA的潛在治愈方法。

主要發表文獻:

Yu, A.C., Yim, A.K., Chan, A.Y., Yuen, L.Y., Au, W.C., Cheng, T.H., Lin, X., Li, J.W., Chan, L.W., Mok, V.C., Chan, T.F.* and Chan, H.Y.E.*(2019) A targeted gene panel that covers coding, noncoding and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases. Front. Neurosci. 13:1324.

Tsoi, H., Yu, A.C., Chen, Z.S., Ng, N.K., Chan, A.Y., Yuen, L.Y., Abrigo, J.M., Tsang, S.Y., Tsui, S.K., Tong, T.M., Lo, I.F., Lam, S.T., Mok, V.C, Wong, L.K., Ngo, C.K., Lau, K.F., Chan, T.F.* and Chan, H.Y.E.* (2014) A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J. Med. Genet. 51, 590-595.

Lenska-Mieciek, M., Charzewska, A., Krolicki, L., Hoffman-Zacharska, D., Chen, Z.S., Lau, K.F., Chan, H.Y.E., Gambin, T. and Fiszer, U. (2019) Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene. Mov. Disord. 34, 142-144.


其他相關資訊:

http://www.cuhk.edu.hk/english/features/professor-edwin-chan.html
https://www.scmp.com/news/hong-kong/article/1599657/discovery-new-gene-mutation-may-improve-ataxia-patients-lives
https://www.neurodegenerationresearch.eu/de/2014/09/hunting-down-a-gene-mutation-that-causes-a-novel-form-of-spinocerebellar-ataxia/
https://www.asianscientist.com/2014/09/in-the-lab/gene-spinocerebellar-ataxia/