Mutations in the SLC2A10 gene cause arterial abnormalities in mice

Cheng, Chao-Hung; Kikuchi, Tateki; Chen, Yen‐Hui; Sabbagha, Nagham George Abd-Al-Ahad; Lee, Yi-Ching; Pan, Huei-Ju; Chang, Chen; Chen, Yuan-Tsong

doi:10.1093/cvr/cvn319

Cited by 49 publications

(48 citation statements)

References 39 publications

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“…Tortuous conjunctival arteries and veins are also reported in patients with diabetic retinopathy [8,82,83,84] and hypertension [84,85]. Tortuosity of retinal vessels has been suggested as an indicator of arterial hypertension, retinopathy, cerebral vessel disease, stroke and ischemic heart disease [49,51,86,87,88].…”

Section: Etiology: Association With Vessel Diseases and Clinical Consmentioning

confidence: 99%

Twisted Blood Vessels: Symptoms, Etiology and Biomechanical Mechanisms

Han¹

2012

J Vasc Res

378

355

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Tortuous arteries and veins are commonly observed in humans and animals. While mild tortuosity is asymptomatic, severe tortuosity can lead to ischemic attack in distal organs. Clinical observations have linked tortuous arteries and veins with aging, atherosclerosis, hypertension, genetic defects and diabetes mellitus. However, the mechanisms of their formation and development are poorly understood. This review summarizes the current clinical and biomechanical studies on the initiation, development and treatment of tortuous blood vessels. We submit a new hypothesis that mechanical instability and remodeling could be mechanisms for the initiation and development of these tortuous vessels.

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Section: Etiology: Association With Vessel Diseases and Clinical Consmentioning

confidence: 99%

Twisted Blood Vessels: Symptoms, Etiology and Biomechanical Mechanisms

Han¹

2012

J Vasc Res

378

355

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“…The ROS levels in the aortic smooth muscle cells of GLUT10 knockout mice [10] are indeed higher under oxidative stress conditions and their mitochondrial DAA transport activity is reduced. However, the relevance of these findings can be questioned as the phenotype of the GLUT10 knockout mice is very mild [11] or even normal [12] as compared to the human ATS phenotype.…”

mentioning

confidence: 99%

Glucose transporter type 10—lacking in arterial tortuosity syndrome—facilitates dehydroascorbic acid transport

et al. 2016

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Loss-of-function mutations in the gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS), a rare connective tissue disorder. In this study GLUT10-mediated dehydroascorbic acid (DAA) transport was investigated, supposing its involvement in the pathomechanism. GLUT10 protein produced by in vitro translation and incorporated into liposomes efficiently transported DAA. Silencing of GLUT10 decreased DAA transport in immortalized human fibroblasts whose plasma membrane was selectively permeabilized. Similarly, the transport of DAA through endomembranes was markedly reduced in fibroblasts from ATS patients. Re-expression of GLUT10 in patients' fibroblasts restored DAA transport activity. The present results demonstrate that GLUT10 is a DAA transporter and DAA transport is diminished in the endomembranes of fibroblasts from ATS patients.

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“…These authors also showed an increase of intracellular reactive oxygen species (ROS) levels that may lead to abnormal elastogenesis in the aortic smooth muscle cells of an ATS mouse model (Lee et al, 2010). This new functional role for GLUT10 may help to explain why the mutant mice do not fully mimic the human syndrome (Callewaert et al, 2008b;Cheng et al, 2009). Indeed, rodents, unlike humans, are able to synthesize AA, and therefore Slc2a10 -/-mice are less susceptible to the lack of GLUT10.…”

Section: Discussionmentioning

confidence: 97%

“…Regarding GLUT10 function in ATS etiopathogenesis, two mouse models have been proposed (Callewaert et al, 2008b;Cheng et al, 2009). Both Slc2a10 mutant mice do not show the pathological features of the human disorder and therefore remain inconclusive with respect to GLUT10 function.…”

Section: Discussionmentioning

confidence: 99%

“…Two mouse models for ATS were proposed, but they did not fully mimic the human syndrome, and the reported phenotypes of these mice remain inconclusive with respect to GLUT10 function (Callewaert et al, 2008b, Cheng et al, 2009. In fact, the role of this transporter in the etiology of ATS is still controversial (Coucke et al, 2006;Akhurst, 2006;Segade, 2010;Lee et al, 2010).…”

mentioning

confidence: 99%

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Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio

Chiarelli

Ritelli²,

Zoppi³

et al. 2011

Int. J. Dev. Biol.

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The SLC2A10 gene located on chromosome 20q13.1 encodes the facilitative glucose transporter 10 (GLUT10), a class III member of the SLC2A facilitative glucose transporter family. Mutations in the human SLC2A10 gene cause arterial tortuosity syndrome (ATS), a rare autosomal recessive connective tissue disorder. In this work, we report the characterization of the slc2a10 ortholog gene in zebrafish (Danio rerio) and its expression pattern during embryonic development and in adult tissues. The slc2a10 gene consists of 5 exons, spanning 8 kb and mapping to a region on chromosome 11 that exhibits conserved synteny with human chromosome 20. The gene encodes Glut10, a 513 amino acid protein that maintains the 12 transmembrane domain structure typical of the GLUTs family, and shares the specific functional motifs involved in sugar transport with the vertebrate GLUT10. RT-PCR analysis showed that two specific splice variants, both including the 5'-UTR region, were expressed during embryogenesis and in different adult zebrafish tissues and organs. In situ hybridization analyses demonstrated a maternal origin of the total slc2a10 mRNA and its ubiquitous distribution until the early somitogenesis stage. In later embryonic stages, slc2a10 mRNA was detected in the otic vesicles, hatching gland cells, pectoral fin, posterior tectum and swim bladder. Overall, these results suggest a wide role of slc2a10 during zebrafish development.

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Mutations in the SLC2A10 gene cause arterial abnormalities in mice

Cited by 49 publications

References 39 publications

Twisted Blood Vessels: Symptoms, Etiology and Biomechanical Mechanisms

Twisted Blood Vessels: Symptoms, Etiology and Biomechanical Mechanisms

Glucose transporter type 10—lacking in arterial tortuosity syndrome—facilitates dehydroascorbic acid transport

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio

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