FAMILIAL ENDOCRINOPATHIES

Parental genomic imprinting in endocrinopathies.

Genomic imprinting is the phenomenon whereby some genes preferentially produce mRNA transcripts from the gene copy derived from the parent of a specific sex. It has been implicated in a number of human diseases (most of them of endocrine interest), such as Prader-Willi/Angelman syndromes, Silver-Russell syndrome, Beckwith-Wiedemann syndrome, transient neonatal diabetes, the focal form of nesidi...

Hemorheology in spontaneous animal endocrinopathies.

Plasma proteins and lipid profile influence whole blood fluidity through changes in plasma viscosity, red cell aggregability and deformation. In diseases like Cushing syndrome (CS) and diabetes mellitus (DM) plasma concentrations of fibrinogen, cholesterol, and triglycerides are increased, and, thus, blood rheology might be affected. Our aim was to determine parameters of blood fluidity in 26 d...

Dominant-negative diabetes insipidus and other endocrinopathies.

Familial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study shows that FNDI is caused by retention of AVP ...

Celiac disease-associated autoimmune endocrinopathies.

Celiac disease (CD) is an autoimmune disorder induced by gluten intake in genetically susceptible individuals. It is characterized by the presence of serum antibodies to endomysium, reticulin, gliadin, and tissue transglutaminase. The incidence of CD in various autoimmune disorders is increased 10- to 30-fold in comparison to the general population, although in many cases CD is clinically asymp...

The effect of endocrinopathies on the blood.