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Glucokinase (GCK) Mutations and Their Characterization in MODY2 Children of Southern Italy

Overview of attention for article published in PLOS ONE, June 2012
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Title
Glucokinase (GCK) Mutations and Their Characterization in MODY2 Children of Southern Italy
Published in
PLOS ONE, June 2012
DOI 10.1371/journal.pone.0038906
Pubmed ID
Authors

Marina Capuano, Carmen Maria Garcia-Herrero, Nadia Tinto, Carla Carluccio, Valentina Capobianco, Iolanda Coto, Arturo Cola, Dario Iafusco, Adriana Franzese, Adriana Zagari, Maria Angeles Navas, Lucia Sacchetti

Abstract

Type 2 Maturity Onset Diabetes of the Young (MODY2) is a monogenic autosomal disease characterized by a primary defect in insulin secretion and hyperglycemia. It results from GCK gene mutations that impair enzyme activity. Between 2006 and 2010, we investigated GCK mutations in 66 diabetic children from southern Italy with suspected MODY2. Denaturing High Performance Liquid Chromatography (DHPLC) and sequence analysis revealed 19 GCK mutations in 28 children, six of which were novel: p.Glu40Asp, p.Val154Leu, p.Arg447Glyfs, p.Lys458_Cys461del, p.Glu395_Arg397del and c.580-2A>T. We evaluated the effect of these 19 mutations using bioinformatic tools such as Polymorphism Phenotyping (Polyphen), Sorting Intolerant From Tolerant (SIFT) and in silico modelling. We also conducted a functional study to evaluate the pathogenic significance of seven mutations that are among the most severe mutations found in our population, and have never been characterized: p.Glu70Asp, p.His137Asp, p.Phe150Tyr, p.Val154Leu, p.Gly162Asp, p.Arg303Trp and p.Arg392Ser. These seven mutations, by altering one or more kinetic parameters, reduced enzyme catalytic activity by >40%. All mutations except p.Glu70Asp displayed thermal-instability, indeed >50% of enzyme activity was lost at 50°C/30 min. Thus, these seven mutations play a pathogenic role in MODY2 insurgence. In conclusion, this report revealed six novel GCK mutations and sheds some light on the structure-function relationship of human GCK mutations and MODY2.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 61 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Brazil 1 2%
Unknown 60 98%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 12 20%
Student > Ph. D. Student 8 13%
Student > Doctoral Student 7 11%
Other 5 8%
Researcher 4 7%
Other 12 20%
Unknown 13 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 15 25%
Agricultural and Biological Sciences 13 21%
Medicine and Dentistry 12 20%
Nursing and Health Professions 2 3%
Unspecified 1 2%
Other 5 8%
Unknown 13 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 10 September 2012.
All research outputs
#15,251,053
of 22,678,224 outputs
Outputs from PLOS ONE
#129,864
of 193,568 outputs
Outputs of similar age
#104,395
of 163,890 outputs
Outputs of similar age from PLOS ONE
#2,528
of 3,923 outputs
Altmetric has tracked 22,678,224 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
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