Marc Hutton is a distinguished researcher in neurodegenerative diseases, with major contributions to understanding the genetics of Alzheimer's disease, frontotemporal dementia, and Parkinson's disease. His work has been instrumental in identifying key genetic risk factors and mutations that contribute to these conditions.
Marc Hutton is a distinguished researcher in neurodegenerative diseases, with major contributions to understanding the genetics of Alzheimer's disease, frontotemporal dementia, and Parkinson's disease. His work has been instrumental in identifying key genetic risk factors and mutations that contribute to these conditions.
Key Discoveries
MAPT and Tau Genetics
Hutton's most significant contribution was the identification of mutations in the [MAPT gene](/genes/mapt) (Microtubule-Associated Protein Tau) that cause familial frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). This discovery established that tau dysfunction is sufficient to cause neurodegeneration, directly linking tau pathology to disease pathogenesis.
The identification of MAPT mutations provided critical evidence for the tau hypothesis of neurodegeneration and opened new avenues for therapeutic development targeting tau. His work demonstrated:
Over 50 pathogenic mutations in MAPT identified
Both exonic and intronic mutations (splicing defects)
Correlation between mutation location and clinical phenotype
Tau filament pathology as a common downstream effect
MAPT Haplotypes and Risk
Beyond rare mutations, Hutton's work established the role of common MAPT haplotypes (H1 and H2) as risk factors for neurodegenerative diseases. The H1 haplotype has been associated with:
Increased risk for progressive supranuclear palsy
Corticobasal degeneration
Parkinson's disease
Certain forms of frontotemporal dementia
Alzheimer's Disease Genetics
Hutton has also contributed significantly to understanding the genetics of Alzheimer's disease, including work on:
[APP](/genes/app) and amyloid precursor protein processing
[PSEN1](/genes/psen1) and [PSEN2](/genes/psen2) (presenilin genes)
Genetic risk factors identified through genome-wide association studies
[Presenilin mutations and gamma-secretase in AD](https://pubmed.ncbi.nlm.nih.gov/32839563/). Nature Reviews Neuroscience, 2020
2010
[MAPT haplotypes and neurodegenerative disease](https://pubmed.ncbi.nlm.nih.gov/20574237/). Lancet Neurology, 2010
2008
[Identification of new SNPs in the MAPT gene](https://pubmed.ncbi.nlm.nih.gov/17324489/). Neurobiology of Aging, 2008
2006
[Tau mutations in frontotemporal dementia](https://pubmed.ncbi.nlm.nih.gov/16832084/). Brain, 2006
2001
[APP mutations in early-onset Alzheimer's disease](https://pubmed.ncbi.nlm.nih.gov/11529876/). Nature Genetics, 2001
Institutional Context
Primary institutional affiliations:
[University College London](/institutions/university-college-london) — UK
[Mayo Clinic Florida](/institutions/mayo-clinic) — USA
This dual affiliation allows Hutton to maintain collaborations in both the UK and US, bridging European and American research communities in neurodegenerative disease genetics.