Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses

Rachel A Kline; Thomas M Wishart; Kevin Mills; Wendy E Heywood

doi:10.1016/j.bbadis.2019.06.012

Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses

Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165498. doi: 10.1016/j.bbadis.2019.06.012. Epub 2019 Jun 15.

Authors

Rachel A Kline¹, Thomas M Wishart¹, Kevin Mills², Wendy E Heywood³

Affiliations

¹ Roslin Institute and Royal (Dick), School of Veterinary Studies, University of Edinburgh, Edinburgh, UK; The Euan MacDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh, UK.
² Inborn Errors of Metabolism Section, Genetics & Genomic Medicine Unit, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK; NIHR Great Ormond Street Biomedical Research Centre, Great Ormond Street Hospital, UCL Great Ormond Street Institute of Child Health, UK.
³ Inborn Errors of Metabolism Section, Genetics & Genomic Medicine Unit, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK; NIHR Great Ormond Street Biomedical Research Centre, Great Ormond Street Hospital, UCL Great Ormond Street Institute of Child Health, UK. Electronic address: [email protected].

PMID: 31207290
DOI: 10.1016/j.bbadis.2019.06.012

Abstract

The Neuronal Ceroid Lipofuscinoses are a group of severe and progressive neurodegenerative disorders, which generally present during childhood. With new treatments emerging on the horizon, there is a growing need to understand the specific disease mechanisms as well as identify prospective biomarkers for use to stratify patients and monitor treatment. The use of Omics technologies to NCLs has the potential to address this need. We discuss the recent use and outcomes of Omics to various forms of NCL including identification of interactomes, affected biological pathways and potential biomarker candidates. We also identify common pathways affected in NCL across the reviewed studies.

Keywords: Batten disease; CLN1–14; Metabolomics; Neuronal Ceroid Lipofuscinoses; Proteomics.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Animals
Biomarkers
Genomics*
Humans
Neuronal Ceroid-Lipofuscinoses* / genetics
Neuronal Ceroid-Lipofuscinoses* / metabolism
Proteomics*

Substances

Biomarkers

Abstract

Publication types

MeSH terms

Substances

Grants and funding