Hi everyone, while we all share an interest in alzheimer's

disease, I'd like to focus on a specific aspect which is

Familial AD which we can call FAD as well.
So basically, FAD stands apart from the classic picture of
Alzheimers, highlighting the crucial role of genetics at
this type specifically.
FAD arises due to mutations in genes like APP, PSEN1,
and PSEN2 that the risk of developing the disease is
significantly increased by these mutatioins
So let's talk more about these genes mutations and how
they play a crucial role in developing FAD.
Both PSEN1 on cheomosome 14 and PSEN2 on
cheomosome 1 are genes code for presenilin 1 and 2
proteins, which play a vital role in the cleavage of APP
into smaller fragments and both are the subunit of gama
secretase .
the normal cleavage process is disrupted bacause of
these mutations, leading to increased production of
abnormal beta-amyloid peptides.
Trisomy 21, also known as Down syndrome, is another
genetic cause of FAD, at this condition there is a
presence of an extra copy of chromosome 21 in each
cell.
Chromosome 21 is responsible for producing APP that is
located on it. This means that people with down
syndrome have an extra APP gene and they are more
likely to have increased amaloid plaque built up which
increses the chance to develop FAD.
Understanding these mechanisms is crucial for
developing effective prevention and treatment strategies
for this widespread form of the disease.
So Please let me know if everything I've shared is clear