Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine

by Fabrice Lejeune, Hana Benhabiles, Jieshuang Jia

Overview

Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay (NMD).

It presents the mechanism of action and rationale associated with each strategy to correct nonsense mutations with the results of clinical trials to further support this basis. In addition, the book shows how it may be possible to combine several of these strategies to ultimately improve the efficiency of correction, also suggesting the future goals and objectives to improve treatment modalities in this evolving sphere of personalized medicine.

Product Details

ISBN-13:	9780128044681
Publisher:	Elsevier Science
Publication date:	03/14/2016
Pages:	190
Product dimensions:	6.00(w) x 9.00(h) x (d)

About the Author

Dr. Fabrice Lejenue studies the mechanisms that regulate or deregulate the quality control of protein synthesis with the aim to one day utilize these mechanisms to chemically treat diseases such as cystic fibrosis, muscular dystrophy and cancer. He studied under Dr. Lynne Maquat, Director, Center for RNA Biology, and the scientist responsible for discovering the control mechanism messenger RNA carrying nonsense mutations in mammals. Dr. Lejeune continues this work at his lab at the Pasteur Institute.

Hana is a PhD student working with Dr. Fabrice Lejeune. She obtained her Master’s degree in Genetics, in 2014, at the University of Lille in France. Prior coming to Lille, Hana did a biological engineering degree at Boumerdès University in Algeria. She acquired biomedical and biotechnological knowledge that she applies during her PhD. By coupling her engineering and research training, Hana is currently identifying new drugs correcting a nonsense mutation with a focus on their application in clinics to promote the expression of normally unexpressed proteins in these types of pathologies.

Jieshuang Jia is a postdoc fellow studying NMD at the institute of biology of Lille (France) since June 2015. Prior to her postdoc, she achieved her PhD at the University of Lille 2 by studying molecules with nonsense mutation correction capacity. She also got a bachelor of clinical medicine in the Second Military Medical University in July 2004 and a master of internal medicine in the Nephrology Institute of Changzheng Hospital in Shanghai, (China) with a specialty in Nephrology in June 2007. She has won several first class awards and has been the merit student for several times. She has worked in clinic for more than four years and received the advanced hospital worker status. During her clinic time from August 2007 to October 2011, she directed the students’ internships and taught them the diagnosis and treatment of diseases. She also performed some clinical studies on diseases such as polycystic kidney disease, chronic kidney disease with some relation with nonsense mutations until 2011. Her interest focused on new diagnostic methods and therapies of diseases. Now she is studying on NMD and would like to promote a strong interaction between nonsense mutation correction and clinic diseases.

Table of Contents

1. General aspects related to nonsense mutations2. Pathologies susceptible to be targeted for nonsense mutation therapies3. Strategies to correct nonsense mutations4. Conclusions

What People are Saying About This

From the Publisher

This introduction to genetic diseases discusses the impact of nonsense mutations on gene expression and mRNA decay, and includes information on the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay (NMD)

Editorial Reviews

Reviewer: Luis F Escobar, MD, MS (Peyton Manning Children's Hospital)
Description: This well-written book provides insights into the mechanisms by which nonsense mutations in humans lead to pathology. The scientific illustrations are exquisite.
Purpose: With an understanding of these complex mechanisms, the authors discuss current nonsense mutation correction techniques to treat genetic disorders. The goals of the book are unique and masterfully achieved by the authors.
Audience: Although the authors do not specify an audience, it is clear that this is a must-read book for all clinical geneticists, molecular geneticists, and genetic counselors, as well those training in the field of medical genetics. Basic science practitioners would find this book fascinating.
Features: The authors have accomplished a significant task, summarizing an extremely complex subject in a pocket-sized book. Not only is the content well selected and planned, but the language is clear and simple and the illustrations are magnificent. The book presents the basic science of nonsense mutation as a biological mechanism and also provides insight into how it is being used and will be used in the future for the treatment of human genetic disorders. This is fascinating for clinicians caring for patients with genetic disorders. The strategies this book presents provide a wonderful perspective of the treatment modalities to be used in the future.
Assessment: This book is unique - there are no comparable books. The authors have achieved a tremendous goal.

Doody's Review Service

"Not only is the content well selected and planned, but the language is clear and simple and the illustrations are magnificent…This book is unique - there are no comparable books. The authors have achieved a tremendous goal. Score: 100 - 5 Stars!" —Doody's

From the Publisher