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Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption
M G Martín1, E Turk, M P Lostao
1Department of Physiology, UCLA School of Medicine 90095-1751, USA.
Nature Genetics
|February 1, 1996
Summary
Genetic defects in the Na+/glucose cotransporter (SGLT1) cause Glucose-Galactose Malabsorption (GGM), a severe neonatal condition. Screening identified new SGLT1 mutations linked to this disease, aiding diagnosis and management.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- Cotransporters utilize ion gradients for active substrate transport, exemplified by Na+/glucose cotransporter (SGLT1) in intestinal absorption.
- Glucose-Galactose Malabsorption (GGM) arises from SGLT1 defects, leading to severe neonatal diarrhea and potential mortality without dietary intervention.
Purpose of the Study:
- To screen the SGLT1 gene in additional patients with suspected GGM.
- To establish a causal link between identified SGLT1 mutations and the GGM phenotype using heterologous expression.
Main Methods:
- Genetic screening of the SGLT1 gene in 30 new patients.
- Heterologous expression system to validate the functional impact of mutations.
Main Results:
- Identification of novel missense mutations in the SGLT1 gene in patients with GGM.
- Functional characterization in a heterologous system confirmed the link between mutations and impaired glucose transport.
Conclusions:
- Further SGLT1 mutations contribute to Glucose-Galactose Malabsorption.
- Genetic screening and functional studies are crucial for diagnosing and understanding GGM.