Science and Math

Interdisciplinary
Final Task
Gian MYP4, Nicholas MYP5 and Sasha MYP5
TABLE OF CONTENT

01 - What is Charcot-Marie-Tooth
disease Type 1A?

02 - The signs of the syndrome

03 - Genetic inheritance
04 - Inheritance tree
TABLE OF CONTENT #2

05 - The implication of mutation that

lead to the disease

06 - Screening test(s)
07 - Possible and Existing treatments
08 - Type 2 Diabetes Mellitus - Stats and
Probability
What is Charcot-Marie-Tooth
disease Type 1A?
-Known as Hereditary motor and sensory neuropathy (HMSN)

-Inherited neurological disorder

-Caused by inherited fault in genes

-Affects peripheral nerves

-People experience muscle weaknesses of lower legs.

-Possibility to sensory loss & hand muscles weakness.

-Early Adulthood
The signs of the syndrome
-Start to appear between the ages 5-15
- Weakness in your legs, ankles and feet
- Loss of muscle bulk in your legs and feet
- Extreme foot arches
- Hammertoes
- difficulty running and quicker depletion in samina
- Un coordinated stepping resulting in weird walking patterns
-Frequent tripping or falling
-Decreased sensation or a loss of feeling in your legs and feet
Genetic inheritance
-Only 1 copy of a mutated gene is required to get the condition.

-The mutated gene is always located in the X chromosome.

-50% of each child getting the disease

Inheritance tree
The inheritance tree of Charcot-Marie-Tooth disease Type 1A (CMT inheritance)
The implication of mutation that lead to the
disease

The way CMT is caused are mutations in genes that support or produce proteins involved in
the structure and function of either the peripheral nerve axon or the myelin sheath.

Fact: CMT has more than 40 genes, which are all linked to one or more types of the disease

One of the most common reasons of charcot-Marie-Tooth disease Type 1A (CMT) is the
duplication of the PMP22 gene on the 17th chromosome.
Screening test(s)

-If a genetical parent has CMT, the child can be tested starting 18.

- can be done during pregnancy ( usually during the 11 to 14 weeks of pregnancy)

- this is done by removing a bit of the placenta of the womb and test it for known CMTs. this
is to check for chorionic villus sampling (CVS)

- during the 15 to 20 week of pregnancy, doctors check the amniotic fluid for amniocentesis

- this only tells the doctors what kind of CMT the child may have but can not know how
serious it is
Possible and Existing treatments
-No existing cure for the disease: can’t be stopped or reversed, however it can grow to a
point where the progression steadies itself.

-Physical therapies.

-Orthopedic devices (e.g: foot braces).

-Orthopedic surgeries.

-All treatments only help reduce and symptoms from CMT.

 Type 2 Diabetes Mellitus - Group 6: IRS1 and PPARG

Stats and Probability H0: Smoking doesn’t affect Glucose levels.

H1: Smoking does affect Glucose levels.

Contingency Table Expected Frequency Table

Glucose levels (X in mg/dL) Glucose levels (X in mg/dL)

X <100 100 ≤ X ≥ 125 X >125 Total

X <100 100 ≤ X ≥ X >125 Total
125
Smoking 650x1265:25 830x1265:250 1020x1265:2 1265
Smoking 256 415 594 1265 00=328,9 0= 500=516,12
419,98

Not 394 415 426 1235 Not smoking 650x1235:25 830x1235:250 1020x1235:2 1235
smoking 00= 321,1 0= 500= 503,88
410,02
Total 650 830 1020 2500
Total 650 830 1020 2500
Type 2 Diabetes Mellitus -
Stats and Probability

X²calc=Σ (Fo-Fe)²:Fe=56.617

(3-1)(2-1)=2= df
X²calc=56.617
X²crit at 0.01 with D at 2 is 9.21

56.617>9.21
X²calc>X²crit

CONCLUSION: We reject H0 and conclude that smoking affects and has a negative impact on glucose
levels (mg/dL).
THE END English

LA FIN French

DAS ENDE German

DEIREADH Irish

KRAY Bulgarian

LOPPU Finnish

HET EINDE Dutch

LA FINE Italian

SAIGO DESU Japanese

KONIEC Polish
Sources #1
-https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a#:~:tex
t=Charcot%2DMarie%2DTooth%20disease%20type%201A%20(CMT1A)%20is,hand%20
weakness%20and%20sensory%20loss.

-https://www.nhs.uk/conditions/charcot-marie-tooth-disease/

https://www.mayoclinic.org/diseases-conditions/charcot-marie-tooth-disease/symptoms-cau
ses/syc-20350517

https://medlineplus.gov/genetics/condition/charcot-marie-tooth-disease/#:~:text=CMTX%20i
s%20inherited%20in%20an,sufficient%20to%20cause%20the%20condition.

https://www.nhs.uk/conditions/charcot-marie-tooth-disease/causes/

https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Charcot-Mari
e-Tooth-Disease-Fact-Sheet

https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Charcot-Mari
e-Tooth-Disease-Fact-Sheet#:~:text=There%20is%20no%20cure%20for,who%20have%2
0severe%20nerve%20pain.
Sources #2

https://pharnext.com/en/disease/charcot-marie-tooth

https://pubmed.ncbi.nlm.nih.gov/11045666/