Researchers ID Mechanism of Mutation for Rare Diarrheal Disease in Northern Sweden

Research published ahead of print in the journal Function identifies a mechanism by which a mutation in a gene variant leads to Glucose-galactose malabsorption in a region of northern Sweden.

Glucose-galactose malabsorption (GGM) is a rare metabolic condition in which faulty gene coding of the intestinal sodium glucose cotransporter SGLT1 leads to the inability of the body to process the simple sugars glucose and galactose. GGM leads to severe diarrhea, dehydration and weight loss within the few first weeks of life.

Researchers studied a rare variant called the Q457R mutation of GGM, which is higher in Västerbotten County, Sweden than in the general European population. “We established that the positive charge on Q457R prevented the translocation of sugar from the outward-facing to inward-facing conformation. This is contrary to other GGM cases where missense mutations caused defects in trafficking SGLT1 to the plasma membrane,” the research team wrote.

Read the full article, “The molecular basis of glucose galactose malabsorption in a large Swedish pedigree.” Contact APS Media Relations to schedule an interview with the research team.