Channelopathies Flashcards
Define channelopathies.
diseases caused by disturbed function of ion channel or the protien that regulate them.
These disease may be either congenital (resulting from a mutation or mutations in the encoding genes) or acquired (often resulting from autoimmune attack on an ion channel).
What is an ion channel?
An ion channel is a type of protein found in the membranes of cells. These channels act as gateways, allowing specific ions (like sodium, potassium, calcium, or chloride) to pass through the otherwise impermeable lipid membrane. This movement of ions is crucial for various physiological processes, such as nerve signal transmission, muscle contraction, and maintaining the balance of fluids and electrolytes in the body.
Are selective and gated only responding to specific changes in voltage, binding of a molecule or mechanical forces.
What is the function of an ion channel?
An ion channel’s function is to regulate the flow of specific ions across a cell membrane, enabling vital processes like nerve signaling, muscle contraction, and cellular communication.
Wha
What can regulate (gate) the opening and closing of ion channels?
- Voltage: changes in the electric potential across the membran can trigger voltage-gated channels to open or close
- Ligands: Binding of specific molecules, like neurotransmitters or hormones can regulate ligand-gated channels
- Mechanical forces: Strech or pressure on the cell membrane can activate mechanosensitive channels.
Why ion channels are important for normal physiology?
They control how charged particles (ions) move in and out of cells, helping your body do things like send signals, contract muscles, and keep fluids balanced. Without them, essential processes like your heartbeat or brain communication would struggle to work properly.
Loss of alted function of an ion channel is now known to be the underlying cause of a number of diseases
Problems with ion channels can lead to diseases like epilepsy, cyctic fibrosis, and heart rhythm disorders, as they disrupt the body’s ability to control signals and balance.
Epilepsy
A neurological condition that causes recurring seizurues due to abnormal electrical activity in the brain. Seizures can vary widely, from brief episodes of staring or twitching to more intense convulsions. Affects people of all ages.
Cant be cured however treatments can be done to help mange the condition.
Persistent hyperinsulinemic hypoglycemia of infancy (PHII)
Affects insulin regulation. Infants produce too much insulin leading to dangeroously low blood sugar levels, causing seizures and developmental delays. Treatmens inclue medication to control insulin secretion or surgery.
Cerebellar ataxia
Cause by cerebellular damage and leads to coordination imbalance, and poor motor control.
What is active transport?
What is passive transport?
Whats the difference between a pump and an ion channel?
What defines a disease as a channelopathy?
What can give rise to channel dysfunction?
What is required for normal ion channel function?
Cystic fibrosis
An autosomal disease,
Neunatal diabetes
What is Epilepsy?
What does an axon do?
What does a dendrite do?
What is neuronal signalling?
