Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population

Lin, Wen Hsing; Chuang, Lee‐Ming; Chen, C. H.; Yeh, Jih‐I; Hsieh, Pei-Shan; Cheng, Chun-Wen; Chen, Y. T.

doi:10.1007/s00125-006-0218-3

Cited by 25 publications

(13 citation statements)

References 36 publications

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“…GLUT10 has received special interest because it is located at human chromosomal region 20q12-13.1, which has been linked to a susceptibility loci for Type 2 diabetes. However, polymorphisms of GLUT10 are not associated to Type II diabetes in Caucasian Americans [67], Danish [68] and Taiwanese populations [69], but GLUT10 deficiency has recently been found to be associated with human arterial tortuosity syndrome [70].…”

Section: Glut10 (Slc2a10)mentioning

confidence: 99%

Functional Properties and Genomics of Glucose Transporters

Zhao

Keating²

2007

486

393

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Glucose is the major energy source for mammalian cells as well as an important substrate for protein and lipid synthesis. Mammalian cells take up glucose from extracellular fluid into the cell through two families of structurallyrelated glucose transporters. The facilitative glucose transporter family (solute carriers SLC2A, protein symbol GLUT) mediates a bidirectional and energy-independent process of glucose transport in most tissues and cells, while the Na + /glucose cotransporter family (solute carriers SLC5A, protein symbol SGLT) mediates an active, Na + -linked transport process against an electrochemical gradient. The GLUT family consists of thirteen members (GLUT1-12 and HMIT). Phylogenetically, the members of the GLUT family are split into three classes based on protein similarities. Up to now, at least six members of the SGLT family have been cloned (SGLT1-6). In this review, we report both the genomic structure and function of each transporter as well as intra-species comparative genomic analysis of some of these transporters. The affinity for glucose and transport kinetics of each transporter differs and ranges from 0.2 to 17mM. The ability of each protein to transport alternative substrates also differs and includes substrates such as fructose and galactose. In addition, the tissue distribution pattern varies between species. There are different regulation mechanisms of these transporters. Characterization of transcriptional control of some of the gene promoters has been investigated and alternative promoter usage to generate different protein isoforms has been demonstrated. We also introduce some pathophysiological roles of these transporters in human.

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Section: Glut10 (Slc2a10)mentioning

confidence: 99%

Functional Properties and Genomics of Glucose Transporters

Zhao

Keating²

2007

486

393

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“…Previously, a region on chromosome 20q13 containing SLC2A10 has been linked to type 2 diabetes mellitus [Ghosh et al, 1999;Klupa et al, 2000], and SLC2A10 was suggested as a good candidate gene [Andersen et al, 2003;Bento et al, 2005;Lin et al, 2006;McVie-Wylie et al, 2001;Mohlke et al, 2005;Rose et al, 2005]. Evaluation of glucose metabolism in patients harboring pathogenic SCL2A10 mutations could elucidate whether this association with diabetes mellitus exists.…”

Section: Introductionmentioning

confidence: 99%

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

et al. 2008

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Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease, characterized by widespread arterial involvement with elongation, tortuosity, and aneurysms of the large and middle-sized arteries. Recently, SLC2A10 mutations were identified in this condition. This gene encodes the glucose transporter GLUT10 and was previously suggested as a candidate gene for diabetes mellitus type 2. A total of 12 newly identified ATS families with 16 affected individuals were clinically and molecularly characterized. In addition, extensive cardiovascular imaging and glucose tolerance tests were performed in both patients and heterozygous carriers. All 16 patients harbor biallelic SLC2A10 mutations of which nine are novel (six missense, three truncating mutations, including a large deletion). Haplotype analysis suggests founder effects for all five recurrent mutations. Remarkably, patients were significantly older than those previously reported in the literature (P=0.04). Only one affected relative died, most likely of an unrelated cause. Although the natural history of ATS in this series was less severe than previously reported, it does indicate a risk for ischemic events. Two patients initially presented with stroke, respectively at age 8 months and 23 years. Tortuosity of the aorta or large arteries was invariably present. Two adult probands (aged 23 and 35 years) had aortic root dilation, seven patients had localized arterial stenoses, and five had long stenotic stretches of the aorta. Heterozygous carriers did not show any vascular anomalies. Glucose metabolism was normal in six patients and eight heterozygous individuals of five families. As such, overt diabetes is not related to SLC2A10 mutations associated with ATS.

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“…One possibility noted, is that lower expression and activity of the two ABC genes may be caused by hyperglycemia in T2DM. Though unproven, the point is supported by expression levels of ABCA1 inversely comparing to expression levels in leukocytes of glucose deprived fasting individuals without T2DM or hyperglycemia [26][27][28]. An analysis of a Mexican population with T2DM indicated single nucleotide polymorphisms (SNP) in ABCA1 associated with those with T2DM, with a dbSNP location of rs9282541, as well as four other locations in the analysis [29].…”

Section: Atp Binding Cassette (Abc) Transportersmentioning

confidence: 99%

Glucose and Lipid Transporters Roles in Type 2 Diabetes

Kouznetsova¹,

Hauptschein²,

Tsigelny³

2017

Integr Obesity Diabetes

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Type 2 diabetes is a chronic condition encompassing many metabolic processes throughout the body. Glucose and lipid transporters are involved in many of these critical metabolic processes and pathways, and are linked to the development and symptoms of type 2 diabetes. Therapeutic opportunities utilizing these transporters have already begun with the gliflozin drug class of inhibitors of sodium glucose linked co-transporters (SGLT). A range of transporter families: SLC5A (SGLT), SLC2A (GLUT), and ATP binding cassette (ABC) transporters are either connected to glucose or cholesterol homeostasis, significant in a systemic disease like diabetes type 2. Elucidating the roles of these transporters in type 2 diabetes is vital in establishing new and effective options for treatment.

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Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population

Abstract: Aims/hypothesis:

Cited by 25 publications

References 36 publications

Functional Properties and Genomics of Glucose Transporters

Functional Properties and Genomics of Glucose Transporters

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Glucose and Lipid Transporters Roles in Type 2 Diabetes

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