Familial Alzheimer's Disease (FAD) is a rare, inherited form of Alzheimer's disease that is passed down within families due to specific genetic mutations. Unlike sporadic Alzheimer's, which develops without a clear genetic link, FAD can be traced to mutations in these genes: Amyloid precursor protein (APP), Presenilin 1, and Presenilin 2.
In this episode, we explore Familial Alzheimer's, the role of key genes, and genetic testing.
0:00 Intro
0:35 Understanding Alzheimer's Disease (Familial vs. Sporadic)
1:08 Familial Alzheimer's: Genetic Factors
2:06 The Role of Key Genes
2:34 Inheritance and Early-Onset
3:35 Genetic Testing and Considerations
4:06 Seeking Guidance from Medical Professionals
4:18 Outro
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Stickman artwork credit: Zdenek Sasek
millions of people live with Alzheimer's
disease what if I told you there is a form of Alzheimer's that targets families
generation after generation a genetic Time Bomb hidden within our DNA in this video
we'll explore the connection between genetics and Alzheimer's disease if you are new to
this channel my name is Lama I was born a nerd and now I'm a science Communicator
I create content about neuroscience and genetics this episode is part of a series
where I focus on Alzheimer's disease
Alzheimer's disease affects the brain and can
cause problems with memory thinking and behavior there are two ways that Alzheimer's disease
develops caused by unknown reasons this form is called sporadic Alzheimer's disease or caused by
a mutation we call this form familial Alzheimer's disease sometimes you may see it referred to
as autosomal dominant Alzheimer's disease both forms sporadic and familial Alzheimer's disease
have the same symptoms for this episode we will explore familio Alzhe
imer's disease to understand
the connection between genetics and Alzheimer's let's go over some Basics each cell in our body
has a DNA molecule imagine the DNA as the manual of each cell genes are the instructions for
making specific things in your body like your hair type eye color or foot size in Alzheimer's
certain genes play a big role and they can affect whether you get Alzheimer's or not we know that
the human body Grows by multiplying cells when our cells copy DNA to make new cells e
rrors
can happen wait it's not that bad most of the time these errors are fixable pH but oh no
sometimes when the DNA decides to take a break these errors go unfixed and become mutations
mutations can lead to differences in how our body works these differences can be good bad
or have no effect at all for familial alimer three genes are known to cause the disease ameloid
precursor protein prolin 1 and prolin 2 mutations in these genes are involved in the breakdown of
a protein called ameloi
d precursor protein or AP which we don't fully understand yet what we know
is that the breakdown of AP creates harmful sticky fragments known as ameloid protein in the brain
which is a Hallmark of Alzheimer's let's assume one of your parents car is a mutation in one of
these genes in that case there is a 50% chance that you will inherit the mutated Gene and have
a strong probability of developing Alzheimer's before age 65 familial Alzheimer's is rare and
can show symptoms as early as your 5
0s 40s 30s even in your 20s medically speaking and anything
under 65 is classified as early onset Alzheimer's sometimes younger onset Alzheimer's or earlier
onset Alzheimer's potato potato they all have the same meaning time for some fun math if we put
together all Alzheimer's cases that develop before age 65 whether caused by genetics or other factors
less than 15% of all these cases are caused by a mutation in these s genes that means less than
15% of all early onset Alzheimer's are famil
ial Alzheimer's cases because familial Alzheimer's is
tied to genetics Medical Specialists can request a genetic test to confirm a mutation in these
three known genes for those showing symptoms at an early age genetic testing for Alzheimer's
provide valuable information about the disease however genetic testing may not be right for
everyone when you don't have any symptoms and you have a family history of Alzheimer's you
may may want to test to understand your own risk knowing about your ri
sk can add unnecessary
stress so it's not something you can jump into and informed if you are experiencing symptoms or
worried about your risk talk to your doctor they are able to refer you to a genetic counselor
so you can make an informed decision if you like this video and want to learn more about
neuroscience and genetics don't forget to like And subscribe hit the notification button
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