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Published on: September 4, 2017
Mutations in the SLC2A10 gene cause arterial abnormalities in mice
Chao-Hung Cheng1, Tateki Kikuchi, Yen-Hui Chen
1Institute of Biomedical Sciences, Academia Sinica, 128 Academia Road, Section 2, Nankang, Taipei 11529, Taiwan, Republic of China.
Cardiovascular Research
|November 26, 2008
Summary
Mice with GLUT10 mutations develop arterial abnormalities, including thickened vessel walls and increased elastic fibers, mimicking human arterial tortuosity syndrome (ATS). This model aids research into ATS pathogenesis and its links to diabetes complications.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Biology
- Pathology
Background:
- Glucose transporter 10 (GLUT10), encoded by SLC2A10, is crucial for glucose transport.
- Mutations in SLC2A10 are linked to human Arterial Tortuosity Syndrome (ATS).
- Understanding GLUT10's role in vascular health is essential for ATS pathogenesis research.
Purpose of the Study:
- To generate and characterize mouse models with GLUT10 mutations.
- To investigate the vascular pathology associated with GLUT10 deficiency.
- To establish a preclinical model for studying ATS.
Main Methods:
- Gene-driven N-ethyl-N-nitrosourea (ENU) mutagenesis was used to create GLUT10 mutant mice.
- Specific missense mutations (p.G128E and p.S150F) were introduced.
- Phenotypic analysis included physiological measurements, imaging (echocardiogram, electrocardiogram, MRA), and histopathology.
Main Results:
- GLUT10 mutant mice exhibited normal birth, weight gain, and survival.
- No abnormalities were detected in blood/urine glucose or cerebral arteries.
- Histopathology revealed significant arterial wall thickening, increased elastic fibers, and internal elastic lamina disruption.
Conclusions:
- Abnormal elastogenesis and elastic fiber proliferation are key features in GLUT10-deficient mice, offering insights into ATS pathogenesis.
- This GLUT10 mouse model is valuable for studying the relationship between diabetes and vascular complications like retinopathy and nephropathy.
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