Related Experiment Video
Updated: Mar 21, 2026
08:53
Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
Published on: May 16, 2017
9.3K
C9ORF72-ALS/FTD: Transgenic Mice Make a Come-BAC
Lindsey R Hayes1, Jeffrey D Rothstein1
1Brain Science Institute, Department of Neurology, Johns Hopkins University, Baltimore, MD 21205, USA.
Neuron
|May 7, 2016
Summary
Researchers have developed new transgenic mouse models for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS/FTD). These mice carry the C9ORF72 repeat expansion, mimicking key aspects of human ALS/FTD disease.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- The C9ORF72 hexanucleotide repeat expansion is a major genetic cause of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD).
- Despite its significance, a suitable transgenic mouse model accurately reflecting human disease pathology has been lacking for five years post-discovery.
Purpose of the Study:
- To develop and characterize novel BAC transgenic mouse models for the C9ORF72 repeat expansion.
- To establish preclinical models that recapitulate key features of human ALS/FTD for further research.
Main Methods:
- Generation of Bacterial Artificial Chromosome (BAC) transgenic mice.
- Incorporation of the C9ORF72 hexanucleotide repeat expansion into the mouse genome.
- Phenotypic analysis of the developed transgenic lines.
Main Results:
- Successful development of BAC transgenic mice carrying the C9ORF72 repeat expansion.
- These mouse models exhibit recapitulation of critical features observed in human ALS/FTD patients.
- The models provide a valuable platform for studying disease mechanisms and testing therapeutics.
Conclusions:
- The newly developed BAC transgenic mice represent a significant advancement in ALS/FTD research.
- These models are expected to accelerate the understanding and treatment of C9ORF72-associated neurodegenerative diseases.
