BioMed Central Blog

Genetic defects linked to Alzheimer’s disease

Alzheimer’s disease is the most common cause of dementia in the developed world. Recent progress has resulted in a flurry of papers identifying new genes linked to this disease and Genome Medicine is pleased to have published one of these key papers.

Despite continued investigation, the causes of Alzheimer’s disease are not yet fully understood but they are thought to be a mixture of genetic and environmental factors. Several studies have used genome-wide association studies (GWAS) to search the entire human genome for genes that are mutated in Alzheimer’s sufferers in the hope of finding a way to treat or slow down the disease.

A team of researchers across Spain and USA, sponsored by non-profit Fundations Alzheimur and Fundació ACE, performed their own GWAS study using patients with Alzheimer’s disease, and non-affected controls, from Spain and then combined their results with four public GWAS data sets. Researcher Dr Agustín Ruiz commented, “Combining these data sets allowed us to look more accurately at small genetic defects. Using this technique we were able to confirm the presence of mutations (SNP) known to be associated with Alzheimer’s disease, including those within the MS4A cluster, and we also found a novel site.”

“Several of the 16 genes within the MS4A cluster are implicated in the activities of the immune system and are probably involved in allergies and autoimmune disease. MS4A2 in particular has been linked to aspirin-intolerant asthma. Our research provides new evidence for a role of the immune system in the progression of Alzheimer’s disease,” continued Dr Ruiz.

Posted by Maria Hodges at 17:38    Comments (1)