Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease

被引：36

作者：

Cariello, L

deCristofaro, T

Zanetti, L

Cuomo, T

DiMaio, L

Campanella, G

Rinaldi, S

Zanetti, P

DiLauro, R

Varrone, S

机构：

[1] UNIV NAPLES FEDERICO II, DIPARTIMENTO BIOL & PATOL CELLULARE & MOL, CNR, CEOS, I-80131 NAPLES, ITALY

[2] UNIV NAPLES FEDERICO II, DIPARTIMENTO SCI NEUROL, I-80131 NAPLES, ITALY

[3] UNIV NAPLES FEDERICO II, DIPARTIMENTO MATEMAT & APPLICAZ, I-80126 NAPLES, ITALY

[4] UNIV MOLISE, DIPARTIMENTO SAVA, I-86100 CAMPOBASSO, ITALY

来源：

HUMAN GENETICS | 1996年 / 98卷 / 06期

关键词：

D O I：

10.1007/s004390050273

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：633 / 635

页数：3

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