The Role of Pendrin in Health and Disease: Molecular and Functional Aspects of the SLC26A4 Anion Exchanger

by Silvia Dossena (Editor), Markus Paulmichl (Editor)

Overview

This book reviews the current state of knowledge on the genetics, molecular biology and physiology of pendrin, with a particular focus on pendrin dysfunction and the consequences for human health. 

Pendrin is a membrane transport protein expressed in the thyroid, inner ear, kidney and airways, and was recently found in a variety of other tissues and organs. Pendrin malfunction may cause a genetic disease called Pendred syndrome or non-syndromic deafness.

The book provides a thorough description of the multifaceted role of pendrin in human health and disease. As such, it offers an invaluable tool for physiology and pathology researchers, while also providing essential guidance for otorhinolaryngologists and endocrinologists in the diagnosis of Pendred syndrome and pendrin-related deafness.

Product Details

ISBN-13:	9783319432878
Publisher:	Springer International Publishing
Publication date:	03/02/2017
Sold by:	Barnes & Noble
Format:	eBook
Pages:	226
File size:	2 MB

About the Author

Prof. Dr. Markus Paulmichl Institute of Pharmacology and Toxicology of the Paracelsus Medical University Salzburg, Austria
Silvia Dossena, PhD Institute of Pharmacology and Toxicology of the Paracelsus Medical University Salzburg, Austria

Table of Contents

Pendrin and the Pendrin Consortium.- Pendrin role in the inner ear.- Pendrin role in the thyroid and Pendred syndrome.- Pendrin role in the kidney and hypertension.- Interplay between Pendrin and other renal transport molecules.- Pendrin role in the airways: links with asthma and COPD.- Pendrin expression and function in non-conventional sites.- Transcriptional regulation and epigenetics of Pendrin.- Models for Pendrin structure.- Genetic diagnosis of deafness.- Functional and molecular properties of Pendrin allelic variants.- Potential pharmacological interventions for Pendrin dysfunction.

Editorial Reviews

Reviewer: Partha Kasturi, PhD (University of Kansas Medical Center)
Description: This is a comprehensive overview of our current understanding of the genetics, molecular biology, and physiology of pendrin as well as the derangement occurring as a consequence of alterations in its function. Chapters cover the pathophysiology of pendrin and give a succinct summary of the mouse models that contributed to the understanding of pendrin function and dysfunction. Most notably, the book has two chapters that can serve as an excellent source for researchers who are interested in learning the expression and function as well as the transcriptional and epigenetic regulation of the pendrin gene and protein.
Purpose: The purpose is to summarize the current knowledge about the role of pendrin in normal physiology and disease pathology.
Audience: The intended audience is predominantly researchers and physicians interested in a detailed description of the multifaceted function of pendrin. However, the book also could serve as a good source for undergraduate and graduate students and postgraduate trainees interested in thyroid physiology and pathology as well as physiology, pathology, and diagnosis of deafness in general.
Features: The book covers the physiology and pathology associated with pendrin quite well. It presents the information in a concise way using tables and figures that highlight the importance and consequences of pendrin physiology in health and disease. Chapter 3 summarizes the recent studies that investigate the pathological and molecular basis for pendred syndrome phenotypic heterogeneity, with an emphasis on the vestibular system and thyroid gland. Additional knowledge gathered from the work on Slc26a4-/- mouse models for pendred syndrome is informative for this phenotypic heterogeneity. The unique observations of Slc26a4 thyroid and vestibular systems highlight the importance of multiple alleles in pendred syndrome. Chapter 4 discusses cochlear implant in the context of pendrin dysfunction and accompanying inner ear malformations. Chapter 5 gives a concise review of the genetics of deafness and its diagnosis which should be useful to researchers at any level interested in understanding the physiology and pathology of deafness. Chapter 6 provides a brief overview of thyroid hormone deficiency and hypothyroidism, and covers not only the disease associated with thyroid deficiency but also provides a succinct summary of the thyroid anatomy, embryology and histology. Chapter 7 summarizes the controversy surrounding the role of pendrin in thyroid cell function and provides a brief overview of potential alternative transporters that might play a role in iodide transport. Chapters 10 and 11 are an excellent source for researchers who are interested in understanding the pendrin gene and protein with respect to expression and function as well its transcriptional and epigenetic regulation.
Assessment: This book provides a comprehensive overview of the pendrin associated physiology and pathology in one essential reference for all those involved in the field. It covers areas such as pathophysiology, mouse models, and clinical aspects and the genetic and epigenetic, as well as structural and molecular aspects of pendrin.

Doody's Review Service

The purpose is to summarize the current knowledge about the role of pendrin in normal physiology and disease pathology. The intended audience is predominantly researchers and physicians interested in a detailed description of the multifaceted function of pendrin. However, the book also could serve as a good source for undergraduate and graduate students and postgraduate trainees interested in thyroid physiology and pathology as well as physiology, pathology, and diagnosis of deafness in general.” (Partha Kasturi, Doody’s Book Reviews, June, 2017)

From the Publisher