New Mutation Found in Late-Onset Alzheimer’s Disease Through ‘Shanghai APP’ Study

Alzheimer’s disease is the most common neurodegenerative disorder characterized by progressive loss of cognitive function and memory decline. It is estimated that around 44 million people live with dementia worldwide, and this number is projected to triple by 2050.

Scientists have been working for years to identify the genes and mutations associated with the disease in order to develop effective treatments. A new mutation has recently been discovered by researchers from the Shanghai Institute of Materia Medica of the Chinese Academy of Sciences (CAS), collaborating with the National Center for Drug Screening, Shanghai, and ShanghaiTech University, China.

What is Shanghai APP Study?

The Shanghai APP study is a large-scale genetic analysis conducted on 6,000 Chinese individuals. The study aimed to identify any genetic mutations or variants that might be associated with late-onset Alzheimer’s disease.

Taking data from the study, the researchers identified a new variant in the APP (amyloid precursor protein) gene, called p.Ala673Thr. The mutation was found to be associated with an increased risk of late-onset Alzheimer’s disease by 10-20%.

What is APP?

The amyloid precursor protein (APP) gene is located on chromosome 21 and encodes a transmembrane protein involved in the generation of amyloid-beta, which is believed to play a major role in the development of Alzheimer’s disease. Mutations in the APP gene have been previously linked to early-onset Alzheimer’s disease, but this is the first time that a mutation in this gene has been found to be associated with late-onset Alzheimer’s disease.

Implications of the Study

The discovery of the new mutation in the APP gene is an important step forward in our understanding of the genetic basis of Alzheimer’s disease. It provides further evidence of the role of amyloid-beta in the development of the disease and may help to identify new targets for drug development.

The study also highlights the need for more large-scale genetic studies of diverse populations to uncover more genetic mutations that may be linked to Alzheimer’s disease.

Summary

In the Shanghai APP study, a new variant in the APP gene called p.Ala673Thr has been identified as being associated with an increased risk of late-onset Alzheimer’s disease. This is the first time that a mutation in this gene has been found to be associated with late-onset Alzheimer’s disease. The discovery provides important insights into the genetic basis of Alzheimer’s disease and may help to identify new treatments. #HEALTH