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Cardiovascular Research Advance Access originally published online on November 21, 2008
Cardiovascular Research 2009 81(2):381-388; doi:10.1093/cvr/cvn319
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2008. For permissions please email: journals.permissions@oxfordjournals.org

Mutations in the SLC2A10 gene cause arterial abnormalities in mice

Chao-Hung Cheng1, Tateki Kikuchi1, Yen-Hui Chen1, Nagham George Abd-Al-Ahad Sabbagha2,3, Yi-Ching Lee1, Huei-Ju Pan1, Chen Chang1 and Yuan-Tsong Chen1,4,*

1 Institute of Biomedical Sciences, Academia Sinica, 128 Academia Road, Section 2, Nankang, Taipei 11529, Taiwan, Republic of China
2 Molecular Medicine Program of Taiwan International Graduate Program, Institute of Biomedical Sciences, Academia Sinica, Taipei 11529, Taiwan, Republic of China
3 Institute of Biochemistry, National Yang-Ming University, Taipei 11221, Taiwan, Republic of China
4 Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA

* Corresponding author. Tel: +886 2 2789 9104; fax: +886 2 2782 5573. E-mail address: chen0010{at}ibms.sinica.edu.tw

Aims: Glucose transporter 10 (GLUT10), encoded by the SLC2A10 gene, is a member of the class III facilitative glucose transporter family. Mutations in the SLC2A10 gene cause arterial tortuosity syndrome (ATS) in humans. To further study the pathogenesis of the disease, we generated mice carrying GLUT10 mutations.

Methods and results: Using a gene-driven N-ethyl-N-nitrosourea (ENU)-mutagenesis approach, we generated mice carrying GLUT10 mutations c.383G>A and c.449C>T, which resulted in missense mutations of glycine to glutamic acid (p.G128E) and serine to phenylalanine (p.S150F), respectively. Both mutant strains appeared normal at birth, gained weight appropriately and survived to adulthood (>18 months). Blood and urine glucose were normal. Echocardiogram and electrocardiogram were also normal and brain magnetic resonance angiography revealed normal cerebral arteries without tortuosity, stenosis/dilatation, or aneurysm. Histopathology revealed thickening and irregular vessel wall shape of large and medium size arteries characterized by markedly increased elastic fibres, both in number and size. There was also intima endothelial hypertrophy and deranged elastic fibres that resulted in disruption of internal elastic lamina in the aorta of older mice.

Conclusion: Abnormal elastogenesis with early elastic fibre proliferation provides a clue to the pathogenesis of arterial tortuosity in human ATS. Availability of this mouse model will allow testing of the relationship between diabetes and its vascular complications, including diabetic retinopathy, nephropathy and peripheral vascular disease.

KEYWORDS Glucose transporter 10; Arterial tortuosity syndrome; SLC2A10

Time for primary review: 16 days


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