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Related Concept Videos

Glucose Transporters01:27

Glucose Transporters

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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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Carbohydrates consumed through foods are converted into glucose, a crucial energy source for the body. In the prandial state, high blood glucose levels stimulate the secretion of insulin from the pancreas. Insulin inhibits hepatic glucose production and stimulates glucose uptake and metabolism by muscle and adipose tissue. The excess glucose is converted into glycogen and stored in the liver and muscles.
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Modeling an Enzyme Active Site using Molecular Visualization Freeware
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A comprehensive map of human glucokinase variant activity.

Sarah Gersing1, Matteo Cagiada1, Marinella Gebbia2,3,4

  • 1The Linderstrøm-Lang Centre for Protein Science, Department of Biology, University of Copenhagen, Ole Maaløes Vej 5, 2200, Copenhagen, Denmark.

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Glucokinase (GCK) variants impact blood glucose regulation, causing diabetes or hypoglycemia. A new yeast assay efficiently measures GCK variant activity, aiding diagnosis and understanding of these common genetic conditions.

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Area of Science:

  • Biochemistry
  • Genetics
  • Endocrinology

Background:

  • Glucokinase (GCK) is crucial for regulating insulin secretion and blood glucose levels.
  • Sequence variants in GCK can lead to hyperinsulinemic hypoglycemia or GCK-maturity-onset diabetes of the young (GCK-MODY), affecting millions globally.
  • Accurate diagnosis of GCK-related disorders is challenged by difficulties in interpreting novel missense variants.

Purpose of the Study:

  • To develop a high-throughput method for assessing the functional impact of glucokinase (GCK) variants.
  • To comprehensively evaluate both hyperactive and hypoactive GCK variants.
  • To improve the interpretation of genetic variants for clinical diagnosis.

Main Methods:

  • Utilized a multiplexed yeast complementation assay to measure GCK variant activity.
  • Assessed 97% of all possible missense and nonsense GCK variants.
  • Correlated GCK activity scores with in vitro catalytic efficiency and in vivo fasting glucose levels.

Main Results:

  • Developed a yeast assay capable of measuring both hyper- and hypoactive GCK variants, covering 97% of possible missense and nonsense variants.
  • GCK activity scores demonstrated correlation with in vitro catalytic efficiency, carrier fasting glucose levels, and evolutionary conservation.
  • Identified distinct patterns for hypoactive variants (buried positions, active site proximity) and hyperactive variants (destabilization of inactive conformation).

Conclusions:

  • The comprehensive GCK variant activity assessment facilitates improved variant interpretation and diagnosis.
  • Enhanced mechanistic understanding of hyperactive GCK variants was achieved.
  • Findings can inform the development of targeted therapeutics for GCK-related disorders.