WRITTEN ASSIGNMENT 07

UNIVERSITY OF THE PEOPLE

BIOLOGY FOR HEALTH STUDIES (BIOL 1121-01)

RIZWANA MUBEEN (INSTRUCTOR)

DATE; 24th/OCTOBER/2023
1: Based on this video, describe the symptoms of the SCA1 disease.
Answer: The main symptom is ataxia–loss of balance and coordination. This includes not
being able to move in a proper manner or walk well, to the extent of just lying in bed. After
sometimes the patient might not be able to breath well, swallow well or talk well as normal,
and later patient might die (Spinocerebellar ataxia type 1 (concept ID: C0752120) – MedGen
– NCBI, n.d).

2: Explain how to read the chart by indicating what the squares and circles represent
and what is the difference between filled and hollow shapes.
Answer: The Squares represents male individuals, the Circles represents female individuals.
The filled and hollow shapes difference is that the filled shapes shows the individuals who
have the disease and hollow shapes show individuals who have no disease. The Squares and
circles show individuals who died of the disease.

3: Discuss what conclusions can be drawn from the pedigree eg assuming that the
disease is caused by the mutation of one single gene, do you think this mutation is
recessive or dominant? Are the affected individuals more likely to be heterozygous or
homozygous for this mutation? Is the disease affecting equally men and women? For
each conclusion, make sure to explain how it is supported by the pedigree.
Answer: From the analysis the SCAI disease was defined to be transferring from one
generation to another, without forgetting signs and symptoms to be very well examined so as
to understand its progress from the previous generation to the other. The changing has not
been active due to the “pedigree” by looking at both the donors. One donor who is the father
has the disease and it is physically observer features that are shown on the other “allele”.
From the pedigree. From the chart it seems the person who has the disease seems to have
genes of the same allele. The chart describes that the disease attacks both the male and
female, even looking at the generations it seems the female gender is also getting the disease,
as well as males can get the disease too.

4: Based on the descriptions in OMIM and the information from the video, indicate
what genetic mutation is responsible for the SCA1 disease and what consequence it has
on protein primary structure.
The changing in the ATXN1 genes van result in SCA1. The first mentioned gene give
information for making some protein called “ataxin-1”. The protein describes here is all over
the body.

5: Which organ and cell type are primarily affected by the mutation? Is this consistent
with the symptoms observed in SCA1 patients
Answer; The ataxic 1 changing is basically causing problems the “brain” and the other cells
in the “cerebral cortex”. It gives a very good sign as a proof that how the cells are changing
and affecting the brain (Spinocerebellar ataxia type 1 (concept ID: C0752120) – MedGen –
NCBI, n.d).
6: From the video describe the phenotype of the SCA1 mouse. Is it similar to symptoms
observed in SCA1 patients?
The video does not show.

7: Is SCA1 considered to be caused by a loss of function of the protein affected, or is it

thought to be due to another mechanism?
Answer: There is fact that some proof the SCA1 is caused by a “gain-of-function”
mechanism, and the other data says that some lost of some function might cause to increase
of development of a disease.

8: Based on the findings from the mouse model, researchers then developed an SCA1
model in Drosophila – what are the advantages of using a Drosophila model over a
mouse one
Answer: Drosophila are very tiny and that makes it easier to keep it in place. Due to their
feature of being tiny and its conditions are reasonable, they can be examined in the lab. And it
is a real organism of its unique factor of flying.

Question 9: Using the Drosophila model of SCA1, what was the protein kinase they
found to be implicated in SCA1 associated neurodegeneration and why is this
knowledge useful with respect to treating the disease?
Answer: The protein kinase they found to be implicated in SCA1 associated
neurodegeneration is the 14-3-3 protein (Chen, 2003). It was observed that Interaction of Akt-
Phosphorylated Ataxin-1 with 14-3-3 Mediates Neurodegeneration in Spinocerebellar Ataxia
Type 1. This knowledge of phosphatidylinositol 3-kinase/Akt signaling and 14-3-3 cooperate
to modulate the neurotoxicity of ataxin-1 provides insight into SCA1 pathogenesis and
identifies potential targets for therapeutic intervention.

References;
U.S. National Library of Medicine. (n.d.). Spinocerebellar ataxia type 1 (concept ID:
C0752120) – MedGen – NCBI. National Center for Biotechnology Information.
https://www.ncbi.nlm.nih.gov/medgen/155703#:~:text=People%20with%20this%20condition
%20initially,control%20eye%20movement%20(ophthalmoplegia).