Researchers at UCL have identified a genetic variant which is linked to a slower progression of Alzheimer’s disease.
Marzia Scelsi and her team, who are supported by the BRC, discovered patients with a common genetic variant in chromosome 4 - one of 23 pairs of chromosomes in humans which carry DNA - had a lower risk of conversion from mild cognitive impairment to Alzheimer’s.
The finding, published in the journal Brain, is important because little is known about the role of genetics in the overall progression of Alzheimer’s.
‘Alzheimer’s is a very complex disease, with multiple processes taking place in the brain at different stages over a time course of up to 10 or 20 years’, Scelsi said. ‘While we have some knowledge of the genetics behind these processes separately, we don’t know if genetics plays a role in orchestrating the overall sequence of events as they appear in the diseased brain.’
Genetic variants are caused by changes in the molecular units, known as base-pairs, which make up DNA. Many base-pairs change naturally over time, and most genetic variants are harmless. But some affect the risk for certain diseases, and can even be the cause of disease.
Scelsi said the genetics of patients could one day be altered to slow the progression of Alzheimer’s: ‘In the not-too-distant future we may be able to treat patients with techniques like gene editing and gene therapy, which at the moment are used only for very rare diseases.’
Knowing a patient’s genetic information, and therefore whether their Alzheimer’s is likely to progress more quickly or slowly, could also help with treatment selection.
