Explain how inherited mutations that change amino acids in a

Explain how inherited mutations that change amino acids in, and hence the function of, a voltage-gated K+ channel may lead to epilepsy and autism.

Solution

The inherited changes due to mutation leads to changes in voltage gated channels. The voltage gated channels, Nav, Kv, Cav possess pores for the passage sodium, potassium and calcium ions during depolarization, repolarization and hyperpolarization. Nav channels play a role in generation and propagation of action potential on a neuron and Kav channels play a role in resting membrane potential and repolarize the neurons. These gated channels are made up of subunits of proteins. The potassium gated channels have been classified based on the amino acid composition of its subunits. The change in the amino acid composition of subunits leads to abnormal firing of excitory stimuli. Potassium channels irregularities due to gene mutations lead to central nervous system diseases as the potassium channels have been distributed widely in the brain. The changes in the potassium gated channels leads to irregularities in action potential duration and release of neurotransmitters. The increase in potassium gated channels leads to increased excitability, leads to very fast repolarization and irregular calcium homeostasis which leads to epilepsy and seizures.