Neurodevelopmental Physiology and Symptoms
These three terms refer to the different types of holoprosencephaly from least severe to most severe.
What are Lobar, Semilobar, Alobar
This speedy cartoon animal inspires the acronym for the morphogen SHH
What is Sonic the Hedgehog?
It was hypothesized that a cholesterol-deficient diet would cause fetal cholesterol levels to do this
What is decreasing fetal cholesterol levels?
___ are a risk factor associated with holoprosencephaly; these are environmental causes of HPE that may block important genes, but some of their mechanisms are not yet known.
What are teratogens?
These two membrane proteins are associated with the HPE pathway, ___ turns off ____, which continues the pathway
What are Patched and Smoothened
It was hypothesized that inducing maternal diabetes in a HPE risk population would do this to the severity levels of HPE
What is increasing severity levels of HPE?
This severe symptom of Alobar HPE is characterized by a singular eye structure in the midface region
What is Cyclopia
____ is a compound that causes HPE by blocking smoothened proteins, stopping the Gli3 transcription protein. ____ is important for cleaving SHH into a usable protein; low amounts of this will result in unusable SHH, causing HPE.
What are cyclopamine and cholesterol?
Hypothesis that suggests that HPE and the severity of symptoms are caused by multiple genetic and/or environmental factors working together
What is the multi-hit hypothesis?