Student seminars 9/16- muscular dystrophy

Question 1

Main type of muscular dystrophy

Answer 1

Duchenne muscular dystrophy

Question 2

how MD manifests

Answer 2

muscle weakness and
breakdown in all types of muscle

Question 3

dystrophinopathies

Answer 3

Mutation is in the dystrophin gene

Question 4

dys

Answer 4

poor

Question 5

Trophy

Answer 5

nourishment

Question 6

inheritance

Answer 6

X-linked chromosomal recessive disease

Question 7

Extracellular

Answer 7

α-dystroglycan

Question 8

mechanism complex

Answer 8

DYSTROPHIN-GLYCOPROTEIN COMPLEX (DGC)

Question 9

Transmembrane

Answer 9

β-dystroglycan, sarcoglycans,
sarcospan

Question 10

Cytoplasmic

Answer 10

dystrophin, dystrobrevin,
syntrophins, neuronal nitric
oxide synthase

Question 11

DYSTROPHIN MUTATIONS

Answer 11

Deletion or Duplication, Single point mutation

Question 12

Weakening of muscle in…

Answer 12

Cardiac and Respiratory systems

-cardiomyopathy/ diaphram

Question 13

impaired DGC leads to tears in membrane causing…

Answer 13

influx Ca2+
creatine kinase in blood

Question 14

creatine kinase in blood

Answer 14

elevated levels help diagnose muscle injury or MD

Question 15

intracellular Ca2+ causes…

Answer 15

too many active proteases that break down functional proteins

Question 16

why does dystrophin matter?

Answer 16

this mutated gene leads to dysfunctional protein and disrupts the entire complex