The Cause of Spinal Muscular Atrophy


Uploaded by DNALearningCenter on 30.07.2012

Transcript:
SMA is caused by a genetic defect. There's a gene called the Survival of
Motor Neuron gene, or SMN gene,
that when mutated or damaged by the genetic
lesion as such,
fails to produce the SMN protein,
The SMN protein is important to all cells. Every cell needs some SMN
protein,
but some cells need more
SMN protein than other cells do,
and perhaps
the motor neurons within the nervous system and particularly in the spinal
cord
have the most demanding requirement for SMN proteins.
So all of these are functions of the
motor system
and what is affected here is the lower part of the motor system. We
call it the lower motor neuron
that carries that impulse from the spinal cord to the muscle as such.