How mutations lead to neurodegenerative disease

How mutations lead to neurodegenerative disease

Publication date: May 14, 2019

The team of scientists has shown experimentally, for the first time, how mutations ultimately set off an anti-viral like inflammatory response in cells that leads to cell death and, over time, progressive neurological damage.

This study investigates the outcomes of a mutation linked to Huntington’s disease and 20 other neurodegenerative diseases, including some forms of motor neurone disease.

“The abnormal RNA is made from regions of repeated DNA sequences that are found in greater numbers in people affected with Huntington’s and some other neurodegenerative diseases. “

Professor Richards says there are existing drugs for other types of auto-inflammatory disease, which may prove to be effective in treating the symptoms of these diseases, by inhibiting the anti-viral inflammatory response.

Concepts Keywords
Adelaide Neuroimmunology
Alzheimer Inflammation
Chromosomes Alzheimer’s disease
DNA Neurodegeneration
Double Stranded RNA Senescence
Drosophila Neuroscience
Foreign Body Psychiatric diagnosis
Huntington RTT
Inflammatory Response Medical specialties
Molecule Organ systems
Motor Neurone Disease Branches of biology
Mutation Symptoms diseases
Neurodegenerative Shows diseases
Neurodegenerative Disease DNA repeat diseases
Neurodegenerative Diseases
Neurological
Parkinson
Progressive
Repeated Sequences
RNA
Sydney
The Blueprint
Victor Chang
Viral
Viruses

Semantics

Type Source Name
disease MESH neurodegenerative disease
disease DOID neurodegenerative disease
gene UNIPROT PTPN5
drug DRUGBANK Tropicamide
gene UNIPROT SET
gene UNIPROT MAGEE1
gene UNIPROT SMIM10L2B
gene UNIPROT SMIM10L2A
pathway BSID Neurodegenerative Diseases
disease MESH death

Original Article

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