Huntington’s disease genetic mutations expand throughout life

Huntington’s disease genetic mutations expand throughout life

Publication date: Oct 11, 2019

New research, published in EBioMedicine, reveals that the DNA responsible for Huntington’s disease is not stable throughout life, and that older individuals carry longer versions of the genetic mutation than younger individuals.

The study, led by scientists at the University of Glasgow, in association with clinical investigators at University College London and two large teams of international collaborators, investigated the DNA of two large groups of individuals carrying the Huntington’s disease mutation.

To carry out this research the researchers developed a novel high-throughput DNA sequencing method to examine the dynamics of the CAG repeat in the blood cell DNA of individuals carrying the Huntington’s disease mutation.

The paper, “A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington’s disease clinical outcomes,” is published in EBioMedicine.

information: A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington’s disease clinical outcomes, Citation: Huntington’s disease genetic mutations expand throughout life (2019, October 10) retrieved 11 October 2019 from This document is subject to copyright.

Concepts Keywords
Blood Branches of biology
Brain Organ systems
CAA Neurological disorders
Creative Commons Autosomal dominant disorders
Exact Sequence Trinucleotide repeat disorders
Fair Dealing Huntingtin
Gene Rare diseases
Genetic Neurodegeneration
Genetic Code Mutation
Genetic Mutation Huntington’s disease
Genetic Mutations Genetic code
Glasgow Disease
Glutamine
High Throughput Sequencing
Huntingtin
Huntington
Inclusion Body
Intracellular
London
Mutation
Neurodegenerative
Neuron
Neurons
Rare Disease
Somatic
Striatal
Transfected

Semantics

Type Source Name
drug DRUGBANK L-Glutamine
disease MESH genetic association study
disease MESH growth
pathway BSID DNA Repair
disease MESH CAA
gene UNIPROT LARGE1
gene UNIPROT HTT
disease MESH disease progression
disease MESH brain disorder
disease MESH rare disease

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