Lucas-Herald, A. K. , Zürbig, P., Mason, A., Kinning, E., Brown, C. E., Mansoorian, B., Mullen, W. , Ahmed, S. F. and Delles, C. (2019) Proteomic evidence of biological aging in a child with a compound heterozygous ZMPSTE24 mutation. Proteomics Clinical Applications, 13(2), 1800135. (doi: 10.1002/prca.201800135) (PMID:30548811) (PMCID:PMC6492098)
|
Text
175172.pdf - Published Version Available under License Creative Commons Attribution. 448kB |
Abstract
Background: Progeria-like syndromes offer a unique insight into ageing. Here we present the case of a boy affected with mandibuloacral dysplasia and compound heterozygous mutations in ZMPSTE24. Methods: Capillary electrophoresis-mass spectroscopy was used for proteome analysis to analyse peptides previously found to be differentially regulated in chronic kidney disease (273 peptides defining the CKD273 classifier), coronary artery disease (238 peptides defining the CAD238 classifier) and ageing (116 peptides defining the AGE116 classifier). Results: No evidence of renal disease was identified. Although the boy has no overt cardiovascular disease other than a raised carotid intima media thickness relative to his age, a proteomic classifier for the diagnosis of coronary artery disease was mildly raised. The biological age based on the proteomic AGE116 classifier was 24 years compared to the chronological ages of 5 and 10 years. In contrast, a control group of healthy children had a significantly lower (p<0.0001) calculated mean age of 13. Conclusion: Urinary proteomic analysis is effective in confirming advanced biological age and to identify early evidence of renal or cardiovascular damage. Our case highlights the value of proteomic approaches in ageing research and may represent a method for non-invasive monitoring of the effects of early ageing.
| Item Type: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Lucas-Herald, Dr Angela and Mason, Dr Avril and Brown, Dr Catriona and Mullen, Dr Bill and Mansoorian, Dr Bahareh and Delles, Professor Christian and Ahmed, Professor Syed Faisal |
| Authors: | Lucas-Herald, A. K., Zürbig, P., Mason, A., Kinning, E., Brown, C. E., Mansoorian, B., Mullen, W., Ahmed, S. F., and Delles, C. |
| College/School: | College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing |
| Journal Name: | Proteomics Clinical Applications |
| Publisher: | Wiley |
| ISSN: | 1862-8346 |
| ISSN (Online): | 1862-8354 |
| Published Online: | 13 December 2018 |
| Copyright Holders: | Copyright © 2018 The Authors |
| First Published: | First published in Proteomics Clinical Applications 13(2):1800135 |
| Publisher Policy: | Reproduced under a Creative Commons License |
University Staff: Request a correction | Enlighten Editors: Update this record
Funder and Project Information
Funder and Project Information