Books /Mitochondrial Diseases: From Genes to Clinical Manifestations

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Mitochondrial Diseases: From Genes to Clinical Manifestations

ISBN

9781639271481

Author

Liz Herald

Publisher

American Medical Publishers

Language

English

Publication Year

2021

Category :

Genetic Disorders

Pages

235

Price

$ 157

Description

The organelles that generate energy for the cell and are found in every cell of the human body except red blood cells are called mitochondria. The group of disorders caused by mitochondrial dysfunction are referred to as mitochondrial diseases. They are caused by acquired or inherited mutations in mitochondrial DNA or in nuclear genes that code for mitochondrial components. Drugs, infections or other environmental factors can also cause mitochondrial diseases. These disorders are diagnosed with the help of tests such as southern blot to detect big deletions or duplications, polymerase chain reaction and specific mutation testing, and sequencing. Vitamin supplements, pyruvate, and N-acetyl cysteine are used to treat mitochondrial diseases. The book aims to shed light on some of the unexplored aspects of mitochondrial diseases and the current researches in this field. Also included herein is a detailed explanation of the various concepts and applications of this topic. The book will serve as a reference to a broad spectrum of readers.