Endocrine Manifestations and New Developments in Mitochondrial Disease

Author:

Ng Yi Shiau12ORCID,Lim Albert Zishen12ORCID,Panagiotou Grigorios3ORCID,Turnbull Doug M12ORCID,Walker Mark34ORCID

Affiliation:

1. Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK

2. NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

3. Department of Diabetes and Endocrinology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

4. Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK

Abstract

Abstract Mitochondrial diseases are a group of common inherited diseases causing disruption of oxidative phosphorylation. Some patients with mitochondrial disease have endocrine manifestations, with diabetes mellitus being predominant but also include hypogonadism, hypoadrenalism, and hypoparathyroidism. There have been major developments in mitochondrial disease over the past decade that have major implications for all patients. The collection of large cohorts of patients has better defined the phenotype of mitochondrial diseases and the majority of patients with endocrine abnormalities have involvement of several other systems. This means that patients with mitochondrial disease and endocrine manifestations need specialist follow-up because some of the other manifestations, such as stroke-like episodes and cardiomyopathy, are potentially life threatening. Also, the development and follow-up of large cohorts of patients means that there are clinical guidelines for the management of patients with mitochondrial disease. There is also considerable research activity to identify novel therapies for the treatment of mitochondrial disease. The revolution in genetics, with the introduction of next-generation sequencing, has made genetic testing more available and establishing a precise genetic diagnosis is important because it will affect the risk for involvement for different organ systems. Establishing a genetic diagnosis is also crucial because important reproductive options have been developed that will prevent the transmission of mitochondrial disease because of mitochondrial DNA variants to the next generation.

Funder

National Institute for Health Research

Wellcome Trust

Medical Research Council

Biotechnology and Biological Sciences Research Council

Publisher

The Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference202 articles.

1. Mitochondrial disease in adults: recent advances and future promise;Ng;Lancet Neurol.,2021

2. The maintenance of mitochondrial DNA integrity and dynamics by mitochondrial membranes;Chapman;Life (Basel, Switzerland).,2020

3. MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations;Rath;Nucleic Acids Res.,2021

4. MtDNA-maintenance defects: syndromes and genes;Viscomi;J Inherit Metab Dis.,2017

5. Recent advances in understanding the molecular genetic basis of mitochondrial disease;Thompson;J Inherit Metab Dis.,2020

Cited by 14 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3