NOVEL GENETIC FINDINGS IN A CHINESE FAMILY WITH EARLY-ONSET FEMALE RELATED TYPE 2 DIABETES
ACTA ENDOCRINOLOGICA-BUCHAREST
Authors: Zhou, T. C.; Yang, Y.; Zhang, L.; Liu, Y. Y.; Lai, X.; Li, Y.; Li, X.; Xiong, Y. X.; Yang, L.; Irwin, D. M.
Abstract
No inheritance of early-onset female-related type 2 diabetes was reported within Chinese families In this study, we aim to describe the inheritance pattern of type 2 diabetes in a 3-generation family and identify the gene responsible for type 2 diabetes. Genome-wide multipoint parametric linkage analysis revealed a maximum multipoint logarithm of odds (lod) score of 2.1 for a locus being associated with type 2 diabetes in this family on chromosome 20p11.2-12 between 23.5-30.8cM. Type 2 diabetes may be transmitted as an autosomal dominant trait with a high female-related penetrance in this family. Here we describe the first genetic locus for type 2 diabetes at chromosome 20p11.2-12. This region contains 8 known or predicted genes (PLCB1, PLCB4, LAMPS, PAK7, ANKEF1, SNAP25, SLX4IP, and JAG1). Gene SNAP25 which linked to energy or glucose homeostasis associated phenotypes may play a role in the development of type 2 diabetes in this family.
Vesicular traffic in cell navigation
FEBS JOURNAL
Authors: Zylbersztejn, Kathleen; Galli, Thierry
Abstract
Cell navigation is the process whereby cells or cytoplasmic extensions are guided from one point to another in multicellular organisms or, in the case of unicellular eukaryotic organisms, in the environment. Recent work has demonstrated that membrane trafficking plays an important role in this process. Here, we review the role of soluble N-ethylmaleimide-sensitive fusion attachment protein (SNAP) receptors (SNAREs), which constitute the core machinery for membrane fusion and are essential for intracellular vesicular trafficking. We discuss the important functions of several vesicular- and target-SNAREs, in particular vesicular-associated membrane proteins 1, 2, 3, 4 and 7; vti1a/b; SNAP23 and SNAP25; and syntaxins 1, 3, 6 and 13. We conclude that endosomal SNAREs are important for cell navigation, a concept that opens avenues for fundamental research. There are also possible therapeutic applications because some of these SNAREs are the targets of clostridial neurotoxins.