Biomarkers for mitochondrial neurogastrointestinal encephalomyopathy
Research type
Research Study
Full title
The identification of biomarkers for mitochondrial neurogastrointestinal encephalomyopathy
IRAS ID
255077
Contact name
Bridget E Bax
Contact email
Sponsor organisation
St. George's, University of London
Duration of Study in the UK
3 years, 0 months, 4 days
Research summary
Summary of Research
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by a defect in the gene coding for the enzyme thymidine phosphorylase. This leads to a deficiency in enzyme and an accumulation of thymidine and deoxyuridine in the body, which in turn causes damage to the mitochondria.This project aims to identify biological markers in the blood of untreated patients with MNGIE and determine whether they serve as clinically meaningful biomarkers of disease pathologies.
Summary of Results
This aim of this project was to identify a particular type of biological marker called microRNAs (miRNAs) which have been shown to be changed in a number of disease states. We measured the expression of different miRNAs in the blood of patients with the rare disease, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and compared the levels with those in unaffected individuals. The ultimate aim was to determine whether these markers can be used to measure the clinical response to therapies. The single best predictor of MNGIE was miR-34a-5p which was shown to be elevated across each age sub-group of disease, when compared to any healthy group. A decrease in expression of miR-34a-5p was noted during treatment with enzyme replacement therapy in four patients with MNGIE and coincided with clinical biochemical and/or clinical improvement.
The biomarker profile identified in this study will benefit the development of treatments for MNGIE and other mitochondrial disorders through offering a measurement that can be used for monitoring treatment success.REC name
London - Surrey Borders Research Ethics Committee
REC reference
18/LO/2173
Date of REC Opinion
12 Dec 2018
REC opinion
Favourable Opinion