Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
18 Cards in this Set
- Front
- Back
the distinct mechanisms that cause ion channel dysfunction
|
a
|
|
To understand how the malfunction in one or more of the basic properties of an ion channel in neurons or skeletal muscle fibers can explain pathologies of the neuromuscular system.
|
a
|
|
To correlate, using a few better studied neurological disorders, the basic relationships between channel dysfunction, action potential alteration, synaptic transmission, and a given patient syndrome.
|
a
|
|
To understand the inherent difficulties in extrapolating the behavior of an ion channel in an in vitrosystem to a nerve cell in the middle of a complex network of neurons.
|
a
|
|
Ion Channel Diseases.
|
A) Gene mutation: defective channel protein and/or accessory protein not properly expressed;
B) Autoimunediseases: |
|
Thus, so far alterations in gating mechanismsare likely to cause disorders or diseases. These alterations canbe:
|
|
|
Myotonia
|
It is defined as a series of involuntary contractions of skeletal muscle following one or more voluntary contractions. This is a clear indication that repetitive action potentials (APs) are being automatically generated after a train of voluntaryAPs(hyperexcitability). Only Cland/or Na channels were so far been found involved in myotonia. Considering their seminal role in AP generation, it is surprising that K channels mutations have so far not been found in myotonia.
|
|
a
|
Myotoniasrelated to Cl-channel mutations. Human dominant myotoniacongenita(DMC, Thomsen’s disease), recessive myotoniacongenita. Low membrane gCl(CLC 1 channels).
|
|
a
|
|
|
a
|
Why can’t the Clchannel deliver the Cl-current necessary to stabilize the resting membrane potential?
|
|
a
|
Channelopaties affect the permeation of the channel not the gating.
|
|
a
|
Myotoniasrelated to Na+channel mutations:
|
|
Ca channels
Skeletal muscle malignant Hyperthermia (MH) |
|
|
Skeletal muscle
hypokaelemic periodic paralysis. |
|
|
Lambert-Eaton Syndrome.
|
|
|
Familial Hemiplegic Migraine (FHM) and Episodic Ataxia Type-2 (EP-2).
|
|
|
K channels.
|
Many distinct types: voltage-gated, activated by intracellular Ca, outward rectifiers, inward rectifiers, ligandactivated;
|
|
Ligand(neurotransmitter)-activated channels.
|
|