L12-Muscle disorders [2013.10.07]

Question 1

What are the characteristics of a muscular dystrophy?

Answer 1

Hereditary
Progressive
Each of the muscular dystrophy cause a characteristic, selective pattern of weakness

Question 2

What are the symptoms of DMD?

Answer 2

Shoulder and pelvic regions weakness
Shortening of muscles and loss of muscle tissue
Muscles of the upper trunk and arms

Question 3

Rate the severity of muscle dystrophy, from the most serious to least serious

Answer 3

DMD
Outlier
Becker Type Muscular Dystrophy

Question 4

Name the genetic mutation of DMD

Answer 4

Short arm of X-chromosome

Xp21

Question 5

For a carrier mother, what is the chance of the son of getting DMD

Answer 5

50%

Question 6

What is the cause of DMD?

Answer 6

Mutation at dystrophin gene

Question 7

What is the function of dystrophin?

Answer 7

Maintaining the shape and structure of the muscle fiber

Question 8

What is the molecular function of dystrophin?

Answer 8

It contacts the F-actin in the cytoplasm of the cell

Question 9

How is DMD diagnosed?

Answer 9

Creatine kinase (10-100 times)
Electromyography

Question 10

What is the basic principle of immunostainning?

Answer 10

Addition of incubation of 1st antibody against Dystrophin, wash; addition of enzyme labeled 2nd antibody against 1st antibody; wash, color development

Question 11

What are Southern, Western and Northern Blot for?

Answer 11

Southern: DNA
Western: Protein
Northern: RNA