Longevity Briefs: Mutations in this gene increases your risk of Alzheimer’s disease

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Longevity briefs provides a short summary of a novel research, medicine, or technology that caught the attention of our researchers in Oxford, due to its potential to improve our health, wellbeing, and longevity.

Why is this research important: Alzheimer’s disease is the most common form of dementia, a neurological condition which sees the degradation of cognitive ability to a senile state, eventually resulting in death. In the UK alone there are currently 850,000 people living with some form of dementia, this is predicted to rise to over 2 million people by 2050. Alzheimer’s is characterised by an accumulation of tau proteins in the brain.

What did the researchers do: Using a flies as a model, a Japanese research team investigated the role that the MARK4 gene has to play in Alzheimer’s disease. Previous genome wide association studies (GWAS) have shown that a single nucleotide mutation in MARK4 shows an association with increased risk of Alzheimer’s. The team compared the effects of wild type MARK4 expression with a form of MARK4 carrying the single nucleotide mutation.

Key takeaway(s) from this research: The results showed that compared to the wild type, presence of the mutated MARK4 gene led to increased population of highly phosphorylated and insoluble tau proteins, resulting in enhanced accumulation and toxicity of tau. This results in an elevated risk of early onset of Alzheimer’s and leads to increased progression of the disease.

This finding confirms that the MARK4 gene plays an important role in Alzheimer’s pathogenesis in living organisms.

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