Brain cells of patients with Alzheimer’s disease (AD) are found to have a greater number of genetic errors somatic mutations (errors in DNA) as per a study from Brigham and Women’s Hospital and Boston Children’s Hospital, published in the journal Nature.
“As we age, neurons are known to accumulate somatic mutations. In AD neurons, however, we see more mutations and DNA alterations. Our results suggest that AD neurons experience genomic damage that causes immense stress on cells and creates dysfunction among them. These findings may explain why many brain cells die during AD,” says lead author Michael B. Miller, MD, PhD, of the Department of Pathology at the Brigham.
‘Genetic errors somatic mutations (errors in DNA) in the brains of patients with Alzheimers disease are found to accumulate at a faster rate than normal aging, thereby contributing to the disease burden.
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Genetic Pathways Revealed
The study team sequenced tissue DNA to discover a greater number of mutations termed somatic single-nucleotide variants (sSNVs) in patients with AD.
The team stated that this large number of mutations may be the result of increased DNA oxidation, which was proved by measuring the increased levels of 8-Oxoguanine in AD neurons an indicator of oxidative stress and DNA damage.
“Our findings suggest that the sheer number of oxidative lesions and somatic mutations we observed in AD neurons may contribute to its pathology.” “In the future, we are eager to elucidate how the observed mutations in AD neurons cause neuronal cell death and are dedicated to aiding in the discovery of novel treatments that target these pathways,” says Miller.
Source: Medindia
