GeneralC
What is the main cause of Sanfilippo Syndrome?
Accumulation of heparan sulfate due to deficiency of an enzyme that degrades it
What is HS comprised of?
Repeating disaccharides
How should heparan sulfate be affected by homeostasis?
When new HS are produced, old HS should be broken down
Give an example of a neurological symptom
Progressive dementia, aggression, hyperactivity, seizures, learning difficulties, aggression
What configuration is heparan sulfate most functional as?
Heparan Sulfate Proteoglycans
What process is like a positive feedback loop?
Neuron inflammation
Give an example of a somatic symptom
Speech loss, vision loss, skeletal alterations, joint stiffness, deafness
How does excess HS influence CNS
Inflammation of neurons, neuron apoptosis through calcium build up, inhibiting growth factors, cause accumulation of other GAGs
What kinds of mutations are most detrimental and common in Sanfilippo Syndrome?
Nonsense
How would it be diagnosed?
Urine test for increased GAGs, enzymatic activity, genetic testing
Is heparan sulfate inherited
NO! Everyone has it for its necessary function… the genes that cause enzyme deficiencies are autosomal recessive
Why is damage to CNS so detrimental?
It cannot easily regenerate
Give an example of a potential treatment
Enzyme replacement, stem cell, gene therapy (ex or in vivo), substrate reduction
Is heparan sulfate or heparan sulfate proteoglycans the cause of Sanfilppo Syndrome
Heparan Sulfate
If the Nodes of Ranvier are destroyed by inflammation, how could this prevent transmission of synapses?
This is how nerve impulses “jump” from one node to the next, so if damaged, it will be tough for impulse to travel