Abstract
Cotransporters harness ion gradients to drive 'active' transport of substrates into cells, for example, the Na+/glucose cotransporter (SGLT1) couples sugar transport to Na+ gradients across the intestinal brush border. Glucose-Galactose Malabsorption (GGM) is caused by a defect in SGLT1. The phenotype is neonatal onset of diarrhea that results in death unless these sugars are removed from the diet. Previously we showed that two sisters with GGM had a missense mutation in the SGLT1 gene. The gene has now been screened in 30 new patients, and a heterologous expression system has been used to link the mutations to the phenotype.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Animals
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Base Sequence
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Biological Transport
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Cell Membrane / physiology
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Galactose / metabolism*
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Genetic Carrier Screening
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Glucose / metabolism*
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Homozygote
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Humans
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Malabsorption Syndromes / genetics*
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Membrane Glycoproteins / chemistry
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Membrane Glycoproteins / genetics*
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Membrane Glycoproteins / metabolism
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Membrane Potentials
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Methylglucosides / metabolism
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Molecular Sequence Data
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Monosaccharide Transport Proteins / chemistry
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Monosaccharide Transport Proteins / genetics*
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Monosaccharide Transport Proteins / metabolism
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Mutation*
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Oocytes
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Polymorphism, Single-Stranded Conformational
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Protein Structure, Secondary
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Sodium-Glucose Transporter 1
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Xenopus laevis
Substances
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Membrane Glycoproteins
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Methylglucosides
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Monosaccharide Transport Proteins
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SLC5A1 protein, human
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Sodium-Glucose Transporter 1
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methylglucoside
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Glucose
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Galactose