Journal of Translational Genetics and Genomics

Topic: Diagnosis and Treatment of Mitochondrial Disease

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A special issue of Journal of Translational Genetics and Genomics.

ISSN 2578-5281 (Online)

Submission deadline: 31 Mar 2020

Guest Editor(s)

Prof. Andrea L. Gropman

Division of Neurogenetics and Neurodevelopmental Pediatrics, Children's National Medical Center, 111 Michigan Avenue, N.W. Washington, D.C. USA.

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Special Issue Introduction

The special issue focuses on new advances in diagnosis and treatment of mitochondrial diseases.

Participants

Craig mclachlan University of New South Wales (UNSW) Australia, Sydney, Australia.
Giorgina Barbara Piccoli Università degli Studi di Torino, Turin, Italy.
Domenico Santoro Università degli Studi di Messina, Messina, Italy.
Christopher B Jackson Royal North Shore Hospital, Sydney, Australia.
Brian M. Bennett Marquette University, Milwaukee, United States.
Annette Feigenbaum Hospital for Sick Children University of Toronto, Toronto, Canada.
Michio Hirano Columbia University in the City of New York, New York, United States.
Bridget Bax University of London, London, United Kingdom.
Shibani Kanungo University of California, Los Angeles, Los Angeles, United States.
Pankaj Prasun Icahn School of Medicine at Mount Sinai, New York, United States.
George A. Diaz Icahn School of Medicine at Mount Sinai, New York, United States.
Bryn D Webb Icahn School of Medicine at Mount Sinai, New York, United States.
Catarina M Quinzii Columbia University Medical Center, New York, United States.
Olimpia Musumeci Università degli Studi di Messina, Messina, Italy.
Carolyn Sue Royal North Shore Hospital, Sydney, Australia.
Yi Shiau Ng Wellcome Trust Centre for Mitochondrial Research, Newcastle, United Kingdom.
Russell P Saneto University of Washington, Seattle, Seattle, United States.
Liming Shen Shenzhen University, Shenzhen, China.
Yanlei Hao Zhejiang University, Hangzhou, China.
Juliana Gurgel Giannetti Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Dexi Chen Beijing Precision Medicine and Transformation Engineering Technology Research Center of Hepatitis and Liver Cancer, Beijing, China.
Bogdan Alexandru Hagiu Universitatea Alexandru Ioan Cuza, Iasi.
Shalini mani Centre for Cellular and Molecular Biology india, Hyderabad, India.
Nor Azian Abdul Murad Universiti Kebangsaan Malaysia, Bangi, Malaysia.
The list is arranged in no particular order and being updated.

Submission Deadline

31 Mar 2020

Submission Information

Articles of special issue are free of charge for article processing.
For Author Instructions, please refer to http://jtggjournal.com/pages/view/author_instructions
For Online Submission, please login at http://www.oaemesas.com/jtgg
Submission Deadline: 31 Mar 2020
Contacts: Jixiang Zhao, Assistant Editor, editor001@jtggjournal.com

Published Articles

Open Access Review

Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment

Bridget E. Bax

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in TYMP , the gene encoding for the enzyme thymidine phosphorylase. The resulting enzyme deficiency leads to a systemic accumulation of thymidine and 2’-deoxyuridine and ultimately... Read More >

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease caused by mutations in TYMP, the gene encoding for the enzyme thymidine phosphorylase. The resulting enzyme deficiency leads to a systemic accumulation of thymidine and 2’-deoxyuridine and ultimately mitochondrial failure due to a progressive acquisition of secondary mitochondrial DNA (mtDNA) mutations and mtDNA depletion. MNGIE is characterised by gastrointestinal dysmotility, cachexia, peripheral neuropathy, ophthalmoplegia, ptosis and leukoencephalopathy. The disease is progressively degenerative and leads to death at an average age of 37.6 years. Patients invariably encounter misdiagnoses, diagnostic delays, and non-specific clinical management. Despite its rarity, MNGIE has invoked much interest in the development of therapeutic strategies, mainly because it is one of the few mitochondrial disorders where the molecular abnormality is metabolically and physically accessible to manipulation. This review provides a résumé of the current diagnosis and treatment approaches and aims to increase the clinical awareness of MNGIE and thereby facilitate early diagnosis and timely access to treatments, before the development of untreatable and irreversible organ damage.
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This article belongs to the Special Issue Diagnosis and Treatment of Mitochondrial Disease

J Transl Genet Genom 2020;4:[Online First].

DOI: 10.20517/jtgg.2020.08

Published on: 6 Mar 2020 Viewed: 181 Downloaded: 39

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