Dystrophin-Glycoprotein Complex

Which muscle type is not striated

Smooth

Skeletal

Cardiac

Where would you find Dystrophin

Outside cell, connected to ECM

Inside cell, connected to F-actin

What is the structural relationship of dystroglycan alpha and beta

How does disrupted DGC lead to cell death?

Perturbed cell membrane

Transient local membrane disruptions -> Ca efflux

Transient local membrane disruptions -> Ca influx

Activation of proteases

Increased DGC signalling

Disrupted DGC signalling

What condition does caveolin 3 mutation cause?

L-G MD

Becker MD

DCM

What type of cardiomyopathy does sarcoglycan mutation cause?

DCM

HCM

Which of these are features of HCM

Hyper-contractile systolic function

Hyper-relaxation diastolic function

Poor relaxation

Poor contractile force

What is the mode of inheritance for HCM

Autosomal dominant

Autosomal recessive

X-linked recessive

In which ventricles would you expect hypertrophy

Left

Right

Left and right

Left with or without right

Which of these are genes that may cause HCM?

What are the consequences of MHY7 mutations

Disruption to mechanical properties

Disruption to catalytical properties

Reduced force generation

Does the heart enlarge in DCM

No - the walls are only thin

Yes - the walls are thin and stretched

Which of these describes DCM

Inherited

Sporadic

Both

Which of these are DCM mutation genes?

ACTC -> actin

TTN -> titin

Which of these describes dystrophin?

X-linked

Autosomal

What is the most common site for dystrophin mutation?

Rod domain

NH2 terminal

Cysteine-rich domain

Carboxyl terminal domain

What is the function of the NH2 domain in dystrophin

Which of these are true for the central rod domain of dystrophin

Why is BMD less severe than DMD

DGC is fully functional

DGC is partially functional

Which of these diagnosis years is true?

DMD = 3-5 years, BMD = 12 years

DMD = 12 years, BMD = 3-5 years

Why is it important to monitor cardiac function regularly in BMD

Which drug may be prescribed to improve short term strength in BMD

LG MD 2E is a mutation in a gene coding for...

Dystrophin

Dystroglycan alpha

Alpha sarcoglycan

Beta sarcoglycan

Autosomal Dominant Emery Dreifuss MD cause?

Mutated LMNA gene -> lamin A and C

Mutated LMNA gene -> lamin A and B

Is AD ED MD associated with DCM

Yes - 35% have it by middle age

Yes - 100% have it by middle age

What is a common cause of death in AD ED MD

AV fibrilation

Ventricular dysrhythmias

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