Skeletal muscle channelopathies L1

What do ion channels determine?

Which four groups of tissue can ion channel dysfunction affect?

What is a channelopathy?

Which ion channel is responsible for the positive upstroke in skeletal muscle AP?

Which channel is responsible for membrane repolarisation in skeletal muscle?

Which channel is responsible for buffering of after potentials/maintaining repolarisation?

Which channels are responsible for setting the membrane potential in skeletal muscle?

Which channel plays a role in channelopathies but isn't mutated?

What two structures are required for the release of Ca2+ from the SR?

Why is RyR called RyR?

Describe the relationship between the end plate and sarcolemma. What are the key differences?

Describe the conduction of an AP at the neuromuscular junction.

Where is Ca2+ released from in skeletal muscle? How?

What are the different channels expressed on the surface membrane of skeletal muscle and what are they responsible for? (3)

Give four examples of channelopathies.

What happens in myotonia? Why? What can help to alleviate the symptoms?

What is paramyotonia? How does it differ to myotonia?

Describe periodic paralysis/what causes it.

What causes malignant hyperthermia?

What are the three steps in determining the cause of a disease/channelopathy?

What are the two parts of genetic linkage studies?

How can animal models of disease be used?

Once the gene causing the condition has been identified what can be done? What can this be used to study?

What causes myotonia in fainting goats? What is observed? (3)

What are the two types of myotonia which are due to mutations in Cl- channels? What is the difference between the two?

What phenomena do both types of Cl- myotonia show? What mutations are seen and where?

What does CIC-1 exist as? How does this affect mutation patterns?

What is CIC-1?

Where would you expect to the mutation in the goat CIC-1 channel?

Where are the a helices of channels? What characteristic do they have?

What is the overall type of mutation in CIC-1? What does this result in/how does it cause myotonia? (3)

What does the CIC-1 channel consist of? What does this mean for ion flow?

What is cryo-electron microscopy?

How do Thomsen and Becker Myotonias affect ion flow?

Unlike most channels what do we not know about Cl- channels?

In terms of inheritance what are all Na+ channel myotonias? Why is this?

What are the five different types of Na+ channel myotonia?

What helps PAM? What isn't it associated with?

How does PMC differ to PAM? Why is this?

What is hyperPP similar too? What triggers it? How does this differ to hypoPP? What are the associated recommendations?

What is the problem in CMS? What can also cause this?

Describe the structure of an VG Na+ channel (2).

What forms the ion selective pore?

Where is the voltage sensor? What role does the voltage sensor play?

What is responsible for inactivating the VG Na+ channel? Where is it located? How does it do this?

What are the key mutations which cause sodium channel myotonias and where are they located? What type of myotonia do these each cause?

How was potassium-aggravated myotonia studied? What were the results? PART 1

How was potassium-aggravated myotonia studied? What were the results? PART 2 What is the cause of this?