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Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination

Lookup NU author(s): Dr Yi Ng, Catherine Feeney, Dr Andrew Schaefer, Paula Hynd, Dr Charlotte Alston, Dr John Grady, Alexandra Bright, Professor Robert Taylor, Professor Yan Yiannakou, Professor Bobby McFarlandORCiD, Emeritus Professor Doug Turnbull, Professor Grainne Gorman



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


ObjectivesThe m.3243A>G MTTL1 mutation is the most common cause of mitochondrial disease; yet there is limited awareness of intestinal pseudo-obstruction (IPO) in this disorder. We aimed to determine the prevalence, severity, and clinical outcome of patients with m.3243A>G-related mitochondrial disease manifesting with IPO.MethodsIn this large, observational cohort study, we assessed the clinical, molecular, and radiological characteristics of patients with genetically determined m.3243A>G-related mitochondrial disease, who presented with severe symptoms suggestive of bowel obstruction in the absence of an occluding lesion.ResultsBetween January 2009 and June 2015, 226 patients harbouring the m.3243A>G mutation were recruited to the Medical Research Council Centre Mitochondrial Disease Patient Cohort, Newcastle. Thirty patients (13%) presented acutely with IPO. Thirteen of these patients had a preceding history of stroke-like episodes, whereas 1 presented 27 years previously with their first stroke-like episode. Eight patients developed IPO concomitantly during an acute stroke-like episode. Regression analysis suggested stroke was the strongest predictor for development of IPO, in addition to cardiomyopathy, low body mass index and high urinary mutation load. Poor clinical outcome was observed in 6 patients who underwent surgical procedures.InterpretationOur findings suggest, in this common mitochondrial disease, that IPO is an under-recognized, often misdiagnosed clinical entity. Poor clinical outcome associated with stroke and acute surgical intervention highlights the importance of the neurologist having a high index of suspicion, particularly in the acute setting, to instigate timely coordination of appropriate care and management with other specialists. Ann Neurol 2016;80:686-692

Publication metadata

Author(s): Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS

Publication type: Article

Publication status: Published

Journal: Annals of Neurology

Year: 2016

Volume: 80

Issue: 5

Pages: 686-692

Print publication date: 01/11/2016

Online publication date: 19/09/2016

Acceptance date: 14/07/2016

Date deposited: 20/01/2017

ISSN (print): 0364-5134

ISSN (electronic): 1531-8249

Publisher: John Wiley & Sons, Inc.


DOI: 10.1002/ana.24736


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Funder referenceFunder name
Lily Foundation
UK NHS Specialist Commissioners
Biotechnology and Biological Sciences Research Council
Newcastle University Centre for Ageing and Vitality
UK National Institute for Health Research (NIHR) Biomedical Research Centre for Ageing and Age-related disease award
074454/Z/04/ZWellcome Trust
M501700Medical Research Council