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CMBM exam 6 > Channelopathies > Flashcards

Channelopathies Flashcards

1
Q

What is an iron channel?

A

Transmembrane proteins that create a gates, water filled pore to help establish and control membrane potential by modulating the flow of ions between the intracellular and extracelluar environments

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2
Q

What is the type of pump used in neuron action potential?

A

Na/K ATPase pump

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3
Q

What is pumped out of the cell in a neuronal action potential during repolarization?

A

Na

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4
Q

What occurs when there is a genetic type of channelopathy?

A

Loss of function: too little flux

Gain of function: too much flux

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5
Q

What occurs when there is an acquired type of channelopathy?

A

Acquired disorder, drugs or toxins

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6
Q

If there is a loss of function does that mean cell function is lost?

A

No

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7
Q

If there is a loss of function in Na/Ca channels what occurs?

A

Depressed excitability

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8
Q

If there is a loss of function in K channels what occurs?

A

Enhanced excitability

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9
Q

If there is abnormal depolarization of neuron cells what could happen?

A

Seizures and epilepsy

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10
Q

What are some gain of function mutations due to Na influx?

A

Primary erythromelalgia, paroxysmal extreme pain disorder

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11
Q

What is a loss of function mutation due to Na influx?

A

Channelopathy associated insensitivity to pain

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12
Q

What is the most prevalent genetic disorder in Caucasians?

A

Cystic fibrosis

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13
Q

What is the most severe symptoms of CF?

A

Chronic pulmonary infections

Irreversible airways damage

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14
Q

What causes CF?

A

Mutations in the CFTR (CF transmembrane conductance regulator)
Chloride channel of epithelial cells
Abnormal protein folding prevents normal Cl- influx

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15
Q

What is the pathophysiology behind CF?

A

Impaired movement of Cl and Na
Less extracell water
Thicker, dehydrated mucus at epithelial surfaces
Impaired ciliary function and airways bacterial clearance

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16
Q

What would a person from CF often suffer from?

A

Recurrent infections and inflammation

17
Q

What are some complications of CF?

A

No absorption of NaCl, gall stones, enzyme retention, infertility (not sterile)
Salty skin, auto-digestion of the pancreas

18
Q

What are some treatments for CF?

A

Chest percussion and inhaled hypertonic saline to clear pulmonary secretions
Antibiotics
Pancreatic enzyme development replacement
Nutrition
Lung transplant

19
Q

What is the main issue with cardiac channelopathies?

A

Bad channels lead to bad rhythms

Can be lethal (sudden arrhythmic death cases, SIDS)

20
Q

In a normal heartbeat, what causes excitation/contraction (depolarization)?

A

Na and Ca channels

21
Q

In normal heartbeat, what causes relaxations (repolarization)?

A

K channels

22
Q

What is Long QT syndrome?

A

Prolonged repolarization

Inefficient repolarization allows abnormal excitation

23
Q

What is the most common cause of Long QT syndrome?

A

K channel loss of function

Maybe gain of function of Na or Ca channels

24
Q

What drugs may cause long QT syndrome?

A

Antiarrhythmic drugs (K channel blockers)

25
Q

What might trigger an arrhythmia?

A

Swimming, emotional stress, alarms, post-partum

26
Q

What is the insulin/glycemic control regulated by?

A

K-ATP channel

27
Q

What stimulates insulin secretion from pancreatic beta cells?

A

ATP and and sulphonylureas (SUR1)

28
Q

How does the K cause insulin levels to decrease?

A

K channel activity repolarizes cells
Calcium channels close
Lower calcium depresses exocytosis/secretion

29
Q

What is the mechanism of insulin secretagoges (SUL)?

A

Stimulate insulin secretion by interacting with the ATP sensitive K channels
Must have functional beta cells

30
Q

What occurs in a loss of function K-ATP channelopathy?

A

Hyperinsulinemic hypoglycemia

Loss of function mutation of Kir6.2 or SUR1

31
Q

What occurs in a gain of function K-ATP channelopathy?

A

Neonatal diabetes mellitus

Mature onset diabetes of the young (MODY)

CMBM exam 6 (16 decks)

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