Analysis of the full coding sequence of the PSEN1 gene - 1st stage of diagnostics of hereditary Alzheimer's disease

This study is related to the analysis of the full coding sequence of the PSEN1 gene and the diagnosis of Alzheimer's disease. Alzheimer's disease (AD) is a genetic disease of autosomal dominant inheritance. Patients with the inherited form of Alzheimer's disease (AD) carry mutations in presenilin proteins (PSEN1, PSEN2) or amyloid precursor protein (APP). These mutations result in increased production of the longer form of amyloid beta (the main component of amyloid deposits found in the brains of AD patients).

More than 50 different mutations in the APP gene can cause early-onset Alzheimer's disease, which begins before age 65. These mutations account for less than 10 percent of all early cases of the disorder. The most common APP mutation alters one amino acid in the amyloid precursor protein, this mutation results in the substitution of valine for isoleucine at protein position 717 (Val717Ile).

Mutations in the APP gene can lead to an increase in amyloid β peptide or the production of a slightly longer form of the peptide. Copies of this protein fragment stick together and accumulate in the brain, forming clumps called amyloid plaques, which are a hallmark of Alzheimer's disease.

Amyloid plaques are a characteristic feature of Alzheimer's disease

The accumulation of toxic β-amyloid peptide and the formation of amyloid plaques likely leads to neuronal death and progressive physical and subjective symptoms of the disorder. Alzheimer's disease is a degenerative brain disease that causes dementia, which is a gradual loss of memory, judgment and ability to function. As the disease progresses, some people with Alzheimer's experience changes in personality and behavior.

Other common symptoms include agitation, anxiety, withdrawal and loss of language skills. People with the disease usually require total care in the advanced stages of the disease.

As the disease progresses, people with Alzheimer's disease usually require total care