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SM Journal of Pediatrics

FBG1, A Novel Scavenger for A1AT-Z and other Misfolded Proteins Retained in Endoplasmic Reticulum?

[ ISSN : 3067-9990 ]

Abstract
Details

Received: 18-Jan-2016

Accepted: 20-Jan-2016

Published: 22-Jan-2016

Editorial | Volume 1 - Issue 1 | Article DOI :

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Youcai Tang¹²*

1 Department of Sciences and Education and Pediatrics, The Fifth Affiliated Hospital of Zhengzhou University, China.

2 Department of Pediatrics, Saint Louis University, Saint Louis, MO, United States

Corresponding Author:

Youcai Tang, Department of Sciences and Education and Pediatrics, The Fifth Affiliated Hospital of Zhengzhou University, China, Tel: 86-371-66916826, Fax: 86-371-66965783; Email: tangyoucai@hotmail.com

Keywords

Pediatrics, Proteins, genetic disease, lysine

Abstract

α1-antitrypsin deficiency (α1-ATD) is a genetic disease which is featured with accumulation of a1-antitrypsin mutant Z proteins (A1AT-Z) in the Endoplasmic Reticulum (ER) of liver [1-4]. It is caused by a substitution of lysine for glutamate at residue 342 and occurs in 1 out 1800-2000 live births in the North America [1]. The mutant Z protein is prone to adopt polymerized conformation and aggregates in ER of hepatocytes (insoluble aggregates) rather than secreted appropriately into the serum and body fluids (soluble forms), leading to chronic liver damage, fibrosis and cirrhosis, and even Hepatocellular Carcinoma (HCC). Transplantation is the only curative therapy for the patients with severe liver disease. It has been reported that hepatocytes cope with the burden of accumulated intracellular protein by activating proteasomal degradation pathways (ERAD) and macroautophagy (called autophagy hereafter).

Citation

Tang Y. FBG1, A Novel Scavenger for A1AT-Z and other Misfolded Proteins Retained in Endoplasmic Reticulum?. SM J Pediatr. 2016; 1(1): 1001.