在雷特综合征中，4HNE-蛋白血浆加合物的水平升高。

Increased levels of 4HNE-protein plasma adducts in Rett syndrome.

机构信息

Department of Pathophysiology, Experimental Medicine and Public Health, University of Siena, Siena, Via Aldo Moro 2, 53100 Siena, Italy.

出版信息

Clin Biochem. 2011 Apr;44(5-6):368-71. doi: 10.1016/j.clinbiochem.2011.01.007. Epub 2011 Jan 26.

DOI:10.1016/j.clinbiochem.2011.01.007

PMID:21276437

Abstract

OBJECTIVE

Rett syndrome (RTT) is a neurological disorder and a leading cause of mental retardation in females. It is caused by mutations in methyl-CpG-binding protein 2 (MeCP2) gene and more rarely in cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1) genes. Increased oxidative stress (OS) has been documented in MeCP2-RTT patients. Here, we evaluated the levels of 4-hydroxynonenal plasma protein adducts (4HNE-PAs) in MeCP2-, CDKL5-, and FOXG1-RTT and in their clinical variants.

DESIGN AND METHODS

4HNE-PAs were determined by Western blot in plasma from healthy subjects and RTT patients.

RESULTS

4HNE-PAs levels were increased in MeCP2- and CDKL5-related RTT but not in FOXG1-related RTT.

CONCLUSION

These results showed that OS is present in RTT clinical variants and could play a key role in RTT pathogenesis. Under the OS point of view FOXG1-related RTT appears to be distinct from the MeCP2/CDKL5, suggesting a distinct mechanism involved in its pathogenesis.

摘要

目的

雷特综合征（RTT）是一种神经退行性疾病，也是女性智力迟钝的主要原因。它是由甲基-CpG 结合蛋白 2（MeCP2）基因突变引起的，在较少情况下是由周期蛋白依赖性激酶样 5（CDKL5）和叉头框蛋白 G1（FOXG1）基因突变引起的。在 MeCP2-RTT 患者中，氧化应激（OS）增加已有报道。在这里，我们评估了 MeCP2、CDKL5 和 FOXG1-RTT 及其临床变异型患者血浆中 4-羟壬烯醛蛋白加合物（4HNE-PAs）的水平。