According to a study in Science Translational Medicine, a team of researchers uncovered a new form of early-onset Alzheimer’s disease (AD) arising before 65 years of age.
Such forms of neurodegenerative illnesses are extremely rare, and in the new study, the Swedish research team called the disease they investigated Uppsala APP deletion.
“Point mutations in the amyloid precursor protein gene (APP) cause familial Alzheimer’s disease by increasing generation or altering conformation of amyloid β (Aβ),” the study’s authors explained in their findings.
“Here, we describe the Uppsala APP mutation (Δ690–695), the first reported deletion causing autosomal dominant AD. Affected individuals have an age at symptom onset in their early forties and suffer from a rapidly progressing disease course.”
Based on their discovery of the new gene mutation linked to the early-onset of Alzheimer’s, it was found that the mutation accelerates the production of amyloid plaques, known to be destructive for cognitive health.
“At molecular level, the Uppsala APP mutation alters the protein processing, resulting in increased Aβ production and rapid aggregation,” the study’s authors highlighted in their findings.
“The results contribute to elucidate the molecular mechanisms regulating AD development and to understand the impact of APP mutations on disease pathophysiology.”
