在亨廷顿病患者中，转谷氨酰胺酶活性与CAG重复序列长度相关。
Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease.
作者信息
Cariello L, de Cristofaro T, Zanetti L, Cuomo T, Di Maio L, Campanella G, Rinaldi S, Zanetti P, Di Lauro R, Varrone S
机构信息
Laboratorio di Biochimica e Biologia Molecolare, Stazione Zoologica Anton Dohrn, Naples, Italy.
出版信息
Hum Genet. 1996 Dec;98(6):633-5. doi: 10.1007/s004390050273.
Huntington's disease (HD) is a neurodegenerative disorder associated with CAG repeat expansion. We measured transglutaminase (TGase) activity in lymphocytes from 35 HD patients and from healthy individuals to ascertain whether it was altered in this condition. TGase activity was above maximum control levels in 25% of HD patients; it was correlated with the age of the patient and inversely correlated with the CAG repeat length. These results suggest that: (1) HD could be biochemically heterogeneous, and (2) the length of the CAG repeat expansion/TGase ratio could be important in the manifestation of HD.
亨廷顿舞蹈症（HD）是一种与CAG重复序列扩增相关的神经退行性疾病。我们测量了35名HD患者和健康个体淋巴细胞中的转谷氨酰胺酶（TGase）活性，以确定其在这种疾病中是否发生改变。25%的HD患者TGase活性高于最大对照水平；其与患者年龄相关，与CAG重复序列长度呈负相关。这些结果表明：（1）HD在生化方面可能具有异质性，（2）CAG重复序列扩增长度/TGase比值在HD的表现中可能很重要。
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