What question did this study set out to answer?

To identify the genetic causes of transient neonatal diabetes mellitus in patients lacking chromosome 6q24 abnormalities and characterize their clinical phenotype.

June 27, 2007DiabetesOpen Access

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

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Authors

SFSarah E. FlanaganUniversity of Exeter APAnn‐Marie PatchQIMR Berghofer Medical Research Institute DMDeborah MackayUniversity of Copenhagen

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Implication

Genetic study identifies ATP-sensitive potassium channel mutations in transient neonatal diabetes, indicating a distinct subtype treatable with sulfonylureas.

Key Points

To identify the genetic causes of transient neonatal diabetes mellitus in patients lacking chromosome 6q24 abnormalities and characterize their clinical phenotype.
Screened 97 probands with transient neonatal diabetes mellitus (TNDM) for chromosome 6q24 abnormalities.
Sequenced KCNJ11 and ABCC8 genes, encoding the Kir6.2 and SUR1 subunits of the pancreatic beta-cell K(ATP) channel, in patients without 6q24 defects and evaluated affected family members.
Chromosome 6q24 abnormalities were present in 71% (69/97) of probands, while K(ATP) channel mutations were identified in 26% (25/97 probands: 12 KCNJ11, 13 ABCC8), accounting for 89% of non-6q24 cases.
Patients with K(ATP) mutations had significantly higher birth weights and later diagnosis and remission ages than patients with 6q24 defects (all P < 0.001).
Among 42 diabetic mutation carriers, 91% diagnosed before 6 months of age achieved remission, whereas individuals diagnosed after 6 months presented with permanent diabetes (P < 0.0001).

Cite This Study

Flanagan et al. (2007) studied this question.

synapsesocial.com/papers/69dd52158557d5ab8f40ce72 https://doi.org/10.2337/db07-0043

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Implication

Genetic study identifies ATP-sensitive potassium channel mutations in transient neonatal diabetes, indicating a distinct subtype treatable with sulfonylureas.

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

Discussion

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Implication

Key Points

Cite This Study

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

Discussion

Member takes

Implication

Key Points

Cite This Study

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