Friedreich's ataxia (FRDA)

Question 1

Friedreich’s ataxia (FRDA)

Answer 1

is a rare inherited disorder that causes progressive damage to the nervous system, affecting movement, coordination, and sometimes the heart

Question 2

Symptoms of FRDA

Answer 2

-Typically starts in late childhood or teenage years (between 5 and 15)
-Awkward, unsteady movements (ataxia) that worsen over time
-Difficulty walking and maintaining balance
-Impaired coordination of arms and legs
-Slurred speech (dysarthria)
-Loss of sensation in the arms and legs, potentially spreading to other areas
-Scoliosis (curvature of the spine)
-Foot deformities
-In some cases, heart problems like cardiomyopathy (weakening of the heart muscle) and diabetes

Question 3

Cause of FRDA

Answer 3

FRDA is caused by a genetic mutation in the FXN gene on chromosome 9. This mutation reduces the production of a protein called frataxin, which is essential for nerve cell function.

Question 4

Frataxin

Answer 4

-is a protein found within the mitochondria

-The gene that codes for frataxin is called FXN

-Frataxin’s exact function is still being researched, but it seems to be involved in the assembly of iron-sulfur clusters, which are essential components of many cellular processes, including energy production, DNA repair, and iron metabolism

Question 5

FRDA is? what type (Dominant or recesive?)

Answer 5

autosomal recessive

Question 6

A normal triple repeat allele size is…

Answer 6

6 to 34 repeats

Question 7

individuals with FRDA may have (larger number of repeats)

Answer 7

67 to 1,700 repeats.