1702-P: Fine-Scale Haplotype Mapping of PPM1K Gene Reveals New Genetic Markers for the Study of Insulin Resistance at Clinical Scale

Gestational diabetes mellitus is the most common metabolic disorder in pregnant women. An in-depth study of the pathogenetic mechanisms of the development of gestational diabetes mellitus will allow more accurate prediction of the course, adverse perinatal and long-term metabolic consequences, and will also contribute to the development of effective technologies for the prevention and management of this pathology.

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Genetic markers of insulin resistance in gestational diabetes

Diabetes Mellitus ◽

10.14341/2072-0351-5702 ◽

2009 ◽

Vol 12 (4) ◽

pp. 38-41

Author(s):

Tatiana Vasil'evna Sebko ◽

Yulia Eduardovna Dobrokhotova ◽

Tatiana Alekseevna Ivanova ◽

Valery Vyacheslavovich Nosikov ◽

Tatiana Alekseevna Osipova ◽

...

Keyword(s):

Insulin Resistance ◽

Insulin Secretion ◽

Gestational Diabetes ◽

Pregnant Women ◽

Genetic Markers ◽

Molecular Genetic ◽

Published Data ◽

Impaired Insulin Secretion ◽

Kcnj11 Gene ◽

Impaired Insulin

Aim. To search for genetic markers of insulin resistance and impaired insulin secretion in pregnant women with gestational diabetes mellitus (GDM). Materials and methods. A total of 100 healthy pregnant women and 185 patients with GDM were available for examination. 80 patients developedGDM during current pregnancy, in 105 it was diagnosed 4-19 years ago. 25 of the 105 GDM patients had a history of type 2 DM. The following parameterswere measured: beta-cell secretory activity (proinsulin, ITI, C-peptide), total cholesterol (CH), HDL and LDL CH, triglycerides, HbA1c,fasting glycemia. Molecular-genetic DNA testing using PCR included studies of KCNJ 11, TCF7L2, PPARG2, ADIPOQ, ADIPOR1, ADIPOR2gene polymorphism. These genes were chosen based on the published data associating them with disturbed insulin secretion and sensitivity in DM2patient. Results. Pregnant women with GDM and obesity showed elevated IRI and leptin levels compared with controls. This rise was accompanied bymarked insulin resistance in 75% of these patients. In 50% of the healthy women proinsulin and insulin secretion decreased. Obesity in pregnantpatients was associated with significant elevation of proinsulin, IRI, and C-peptyide levels and GDM with Lys/Lys genotype of polymorphous markerGlu23k of KCNJ11 gene, pro and ala allele of polymorphous marker A219T of ADIPOR2 gene. These associations suggest specific genetic featuresof GDM related to impaired insulin secretion and sensitivity. Conclusion. Studies of common genetic nature of GDM and DM2 permit to identify risk groups at the preclinical stage, plan prevention and treatmentof these disorders.

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Classifying disease chromosomes arising from multiple founders, with application to fine-scale haplotype mapping

Genetic Epidemiology ◽

10.1002/gepi.20016 ◽

2004 ◽

Vol 27 (3) ◽

pp. 173-181 ◽

Cited By ~ 13

Author(s):

K. Yu ◽

R.B. Martin ◽

A.S. Whittemore

Keyword(s):

Fine Scale ◽

Haplotype Mapping

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PO2-14: Genetic markers of insulin resistance are associated with growth hormone response in short SGA children - the North European SGA study (NESGAS)

Growth Hormone & IGF Research ◽

10.1016/s1096-6374(14)50118-9 ◽

2014 ◽

Vol 24 ◽

pp. S43

Author(s):

R.B. Jensen ◽

A. Thankamony ◽

F. Day ◽

J. Kirk ◽

M. Donaldson ◽

...

Keyword(s):

Insulin Resistance ◽

Growth Hormone ◽

Genetic Markers ◽

Growth Hormone Response ◽

Hormone Response ◽

The North

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High Resolution Stereography of Complementary Freeze-Fracture Replicas Reveals the Presence of Depressions Opposite Membrane Associated Particles of Split Membranes

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100066267 ◽

1971 ◽

Vol 29 ◽

pp. 442-443

Author(s):

Russell L. Steere

Keyword(s):

High Resolution ◽

Cardiac Muscle ◽

Electron Micrographs ◽

Chromic Acid ◽

Freeze Fracture ◽

Distilled Water ◽

Fine Scale ◽

Acid Cleaning ◽

Cleaning Solution

Complementary replicas have revealed the fact that the two common faces observed in electron micrographs of freeze-fracture and freeze-etch specimens are complementary to each other and are thus the new faces of a split membrane rather than the original inner and outer surfaces (1, 2 and personal observations). The big question raised by published electron micrographs is why do we not see depressions in the complementary face opposite membrane-associated particles? Reports have appeared indicating that some depressions do appear but complementarity on such a fine scale has yet to be shown.Dog cardiac muscle was perfused with glutaraldehyde, washed in distilled water, then transferred to 30% glycerol (material furnished by Dr. Joaquim Sommer, Duke Univ., and VA Hospital, Durham, N.C.). Small strips were freeze-fractured in a Denton Vacuum DFE-2 Freeze-Etch Unit with complementary replica tooling. Replicas were cleaned in chromic acid cleaning solution, then washed in 4 changes of distilled water and mounted on opposite sides of the center wire of a Formvar-coated grid.

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