Role of endogenous transposable elements in the pathogenesis of MND
Research type
Research Study
Full title
Sequence Analysis Of Genomic DNA To Identify The Insertion Sites Of Endogenous Transposable Elements In Motor Neurone Disease (MND): A Retrospective Analysis Of Samples From Tissue Bank.
IRAS ID
188186
Contact name
JOHN QUINN
Contact email
Sponsor organisation
UNIVERSITY OF LIVERPOOL
Duration of Study in the UK
2 years, 11 months, 31 days
Research summary
In the past decade great strides have been made in better understanding of the genetics of amyotrophic lateral sclerosis (ALS) aka Motor Neurone Disease. Many of the gene variants have been determined that place you at risk for developing ALS. However, these studies also indicate that we still have much to learn about the genetic causes of ALS, the currently identified risk genes only explain around 0.5% of the genetic contribution to the disease. We propose a novel ground breaking project for ALS bringing together some of the foremost neurological geneticists, biologists and clinical groups to explain this missing heritability. The basis of the project is the fact that the genomic DNA you are born with is not a stable entity, rather there is a class of endogenous DNA elements, termed transposable elements, which can spread throughout the genome via a copy-&-paste mechanism causing new, potentially mutagenic insertions in genomic DNA affecting genomic stability and host gene expression which can lead to ALS. In addition to the mutations which can arise during our life, there may be germline mutations that increase an individual's risk for developing ALS. We will use appropriate CNS tissue and lymphocytes from the ALS/MNDA banks in Kings College London to address this genetic variation, this will be correlated with changes in gene expression in the same tissues.
REC name
South Central - Berkshire B Research Ethics Committee
REC reference
15/SC/0736
Date of REC Opinion
23 Nov 2015
REC opinion
Favourable Opinion