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Unexplained gastrointestinal symptoms: Think mitochondrial disease

Chapman, TP; Hadley, G; Fratter, C; Cullen, SN; Bax, BE; Bain, MD; Sapsford, RA; Poulton, J; Travis, SP (2014) Unexplained gastrointestinal symptoms: Think mitochondrial disease. DIGESTIVE AND LIVER DISEASE, 46 (1). 1 - 8. ISSN 1590-8658 https://doi.org/10.1016/j.dld.2013.04.008
SGUL Authors: Bax, Bridget Elizabeth

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Abstract

Defects in mitochondrial function are increasingly recognised as central to the pathogenesis of many diseases, both inherited and acquired. Many of these mitochondrial defects arise from abnormalities in mitochondrial DNA and can result in multisystem disease, with gastrointestinal involvement common. Moreover, mitochondrial disease may present with a range of non-specific symptoms, and thus can be easily misdiagnosed, or even considered to be non-organic. We describe the clinical, histopathological and genetic findings of six patients from three families with gastrointestinal manifestations of mitochondrial disease. In two of the patients, anorexia nervosa was considered as an initial diagnosis. These cases illustrate the challenges of both diagnosing and managing mitochondrial disease and highlight two important but poorly understood aspects, the clinical and the genetic. The pathophysiology of gastrointestinal involvement in mitochondrial disease is discussed and emerging treatments are described. Finally, we provide a checklist of investigations for the gastroenterologist when mitochondrial disease is suspected.

Item Type: Article
Additional Information: NOTICE: this is the author’s version of a work that was accepted for publication in DIGESTIVE AND LIVER DISEASE. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published DIGESTIVE AND LIVER DISEASE, [46, 1, (1 Jan 2014)] http://dx.doi.org/10.1016/j.dld.2013.04.008
Keywords: Mitochondrial disease, Unexplained gastrointestinal symptoms, Science & Technology, Life Sciences & Biomedicine, Gastroenterology & Hepatology, GASTROENTEROLOGY & HEPATOLOGY, NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MNGIE, KEARNS-SAYRE SYNDROME, ANOREXIA-NERVOSA, DNA DEPLETION, DISORDERS, MUTATIONS, CELL, DEFICIENCIES, DELETIONS, MEDICINE, 1103 Clinical Sciences
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: DIGESTIVE AND LIVER DISEASE
ISSN: 1590-8658
Related URLs:
Dates:
DateEvent
1 January 2014Published
Web of Science ID: WOS:000329677400001
URI: https://openaccess.sgul.ac.uk/id/eprint/107121
Publisher's version: https://doi.org/10.1016/j.dld.2013.04.008

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