Genes in Action Summary
Enter the information related to the gene your group is studying into the grid shown
below. Feel free to add extra lines in any of the boxes. Once you have saved this
document, submit it by email to colavito_mary@smc.edu by 2:30 pm on Wednesday,
May 26th.
Student Names
Name of Gene
Chromosomal Location
Mode of Inheritance of allele
causing disease (autosomal
dominant, autosomal
recessive, sex-linked
dominant, sex-linked
recessive, mitochondrial).
Name of Protein Product
Function of Normal Protein in
the Cell
Most Common Mutation
(change) described at the
DNA level
Effect of Faulty Protein
Product (or lack of protein) in
the Cell
Organ System(s) affected by
gene product
Effects of the faulty protein
product (or lack of product) on
this (these) organ systems
Effects of normal gene product
on body as a whole
Fernando Diaz
FBN1
The FBN1 gene is located on the long
arm chromosomal 15 at position 21.1
It is inherited in an autosomal dominant
pattern
Fibrilin-1
Produces Fibrilin-1
Mutations include skeletal problems,
problems seeing(ectopia lentis),aortic
dilatation and dissection
Fibrilin-1 mutations reduce the amount
of fibrilin-1 produced by the cell. It also
changes the structure or stability of
FBN1,and also makes it harder to
transport FBN1 out of the cell. Since
FBN1 transport out of the cell is
reduced there isn’t enough Fibrilin-1 to
make micro fibrils. Not enough
Microfibril weakens the elastic fibers
and causes overation of TGF-beta
growth factors which can lead to
symptoms and signs of Marfan
Syndrome.
Skeleton, eyes and heart, but the most
dangerous manifestations are in the
aorta.
Scientist have found the abnormalities
of FBN1 are mainly of the skeleton,
eyes and heart but the most dangerous
manifestations are in the aorta. In the
aorta it causes aneurysms.
Two fibrillin-1 bind together they form
microfibrils. Microfibrils come together
with elastic fibers,which allow blood
vessels,ligaments, and skin to stretch.
When TGF-beta is released from
microfibrils it activates the growth
Effects of faulty gene product
(or lack of product) on body as
a whole
Additional aspect of gene
activity of interest to your team
Possible methods to prevent
the disease related to this
gene (if any)
Effective Therapy for the
disease related to this gene (if
any)
References
factors from TGF-beta, and affect the
growth and repairs tissues throughout
our entire body.
If we don’t have enough microfibril
formation then elastic fibers will be
weak, and causes overactivation of
TGF-beta growth factors.
Before I read this article, I have never
even heard of Fibrilin-1(FBN1), but now
I know what it is. I also learned that it
messes with the aorta and causes
aneurysms in MFS; Not only was it
interesting to know what causes
aneurysms, but it was fascinating to
actually see a picture of a aneurysm in
a rats heart.
No real way to prevent this because it is
inherited in an autosomal dominant
pattern, but Losarthan can be used to
treat MFS.
Genome.gov