Reference

Individuals at higher risk of developing Fatal Familial Insomnia (FFI) are those who possess a specific genetic mutation in the prion protein gene (PRNP). Here’s an overview of the main points relevant to this topic:

1. Genetics: FFI is an autosomal dominant inherited disorder, meaning that it is caused by a mutation in the prion protein gene (PRNP). This mutation is passed from parents to children, and each child of an affected parent has a 50% chance of inheriting the faulty gene source.

2. Specific Mutation: The most common mutation associated with FFI is at codon 178 of the PRNP gene, known as the D178N mutation, which replaces aspartic acid (D) with asparagine (N) source.

3. Family History: Given its hereditary nature, individuals who have a family history of FFI are at significantly higher risk. This means that if a direct relative (such as a parent or sibling) has been diagnosed with FFI, there is a greater likelihood of developing the condition source.

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To summarize, Fatal Familial Insomnia primarily affects those with a specific genetic mutation in the PRNP gene. Its autosomal dominant inheritance pattern means that the disorder can easily be passed from one generation to the next within affected families.