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One-third of the 35,000 genes encoded in the human genome are expressed in
the nervous system. Each mature brain is composed of 100 billion neurons,
several million miles of axons and dendrites, and >1015 synapses.
K channel disorders
Episodic ataxia-1 KCNA1
Benign neonatal familial convulsions KCNQ2, KCNQ3
Jorvell and Lange-Nielsen syndrome (deafness, prolonged QT interval, and
arrythmia) KCNQ1, KCNE1
30
Autosomal dominant progressive deafness KCNQ4
Acetylcholine (ACh)
Norepinephrine (NE)
Locus coeruleus (pons) limbic system, hypothalamus, cortex----Mood
disorders (MAOA inhibitors and tricyclics increase NE and improve depression)
Medulla locus coeruleus, spinal cord--- Anxiety
Postganglionic neurons of sympathetic nervous system----
Orthostatic tachycardia syndrome (mutations in NE transporter)
Serotonin
GABA
Major inhibitory neurotransmitter in brain;
widespread cortical interneurons and long projection pathways –
Stiff person syndrome (antibodies to glutamic acid decarboxylase, the
biosynthetic enzyme for GABA)
Glycine
Major inhibitory neurotransmitter in spinal cord –
Spasticity
Hyperekplexia (myoclonic startle syndrome) due to mutations in glycine
receptor
Glutamate
Major excitatory neurotransmitter; located throughout CNS, including cortical
pyramidal cells—
Addictive drugs share the property of increasing dopamine release in the nucleus
accumbens.
The homologue of PLP in the PNS is the P0 protein, mutations in which cause
the neuropathy Charcot-Marie-Tooth disease (CMT) type 1B.
EEG