This blog tracks updates to the Blood Sugar 101 Web site.

Friday, May 25, 2012

Study: 15% of Type 2s diagnosed before Age 45 have defects in MODY genes

Page Changed: MODY - It's Not Type 1 and Not Type 2, but Something Else 

Added this reference to a new study:

A study of individuals with clinically labeled type 2 diabetes, found that when HNF1A and HNF4A were sequenced in 80 subjects with diabetes diagnosed <=30 years and/or diabetes diagnosed <=45 years without metabolic syndrome 12 of the subjects were found to have mutations in the HNF1A and HNF4A genes suggestive of MODY. This represents 15% of those 80 subjects.

Most significantly, though, of these 12 subjects, only 47% of MODY subjects identified met current guidelines for diagnostic sequencing. This means that if they took the standard MODY tests their mutation would not have been found.

The study concludes, "We recommend that all patients diagnosed before age 30 and with presence of C-peptide at 3 years' duration [be] considered for molecular diagnostic analysis." Note that this is not the same as taking Athena Lab's MODY tests but involves looking at the MODY genes for evidence of any significant defect.

Systematic Assessment of Etiology in Adults With a Clinical Diagnosis of Young-Onset Type 2 Diabetes Is a Successful Strategy for Identifying Maturity-Onset Diabetes of the Young. Gaya Thanabalasingham et al. Diabetes Care Diabetes Care June 2012 vol. 35 no. 6 1206-1212

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