SNP Shot: Genomic Insights

Prion diseases are a collection of neurological disorders affecting both humans and animals. In humans, these diseases lead to impaired brain function, resulting in alterations in memory, personality, and behavior. They also cause a decline in cognitive abilities (dementia) and movement problems, especially difficulties with coordination (ataxia). Symptoms generally appear in adulthood and progressively worsen, typically leading to death within months to years.

Inheritance:

Familial prion diseases are inherited in an autosomal dominant manner. This means that possessing just one copy of a mutated PRNP gene in each cell is enough to cause the disease. Usually, an affected individual inherits this mutated gene from a parent who also has the condition. However, sometimes familial prion diseases arise from a new gene mutation during the creation of the parent's egg or sperm cells, or early in the development of the embryo. While these individuals don't have an affected parent, they can still pass the mutated gene to their offspring. In contrast, sporadic, acquired, and iatrogenic forms of prion disease, including kuru and variant Creutzfeldt-Jakob disease, are not passed down through families.