DOCA sensitive pendrin expression in kidney, heart, lung and thyroid tissues.

[pendred syndrome]

Pendrin (SLC 26 A 4 ), a transporter accomplishing anion exchange , is expressed in inner ear , thyroid gland , kidneys , lung , liver and heart . Loss or reduction of function mutations of SLC 26 A 4 underlie Pendred syndrome , a disorder invariably leading to hearing loss with enlarged vestibular aqueducts and in some patients to hypothyroidism and goiter . Renal pendrin expression is up-regulated by mineralocorticoids such as aldosterone or deoxycorticosterone (DOCA ). Little is known about the impact of mineralocorticoids on pendrin expression in extrarenal tissues .The present study utilized RT-qPCR and Western blotting to quantify the transcript levels and protein abundance of Slc 26 a 4 in murine kidney , thyroid , heart and lung prior to and following subcutaneous administration of 100 mg /kg DOCA .Slc 26 a 4 transcript levels as compared to Gapdh transcript levels were significantly increased by DOCA treatment in kidney , heart , lung and thyroid . Accordingly pendrin protein expression was again significantly increased by DOCA treatment in kidney , heart , lung and thyroid .The observations reveal mineralocorticoid sensitivity of pendrin expression in kidney , heart , thyroid and lung .

Diseases
Validation

Diseases presenting "hearing loss" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

benign recurrent intrahepatic cholestasis

canavan disease

cohen syndrome

congenital toxoplasmosis

dentinogenesis imperfecta

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

neonatal adrenoleukodystrophy

pendred syndrome

von hippel-lindau disease

wolf-hirschhorn syndrome

This symptom has already been validated