The Steffan laboratory is being funded by the Hereditary Disease Foundation to investigate
how the Huntingtin protein interacts with the ubiquitin - tagged trash in order to scaffold it to the lysosome for degradation, and to figure out what kinds of trash may be cleaned up by Huntingtin.
It's not clear exactly
how huntingtin helps with the efficient use of iron in the thalamus.
With these details of translation in mind, a team of Huntington's disease researchers, led by Susann Schweiger of The Max Planck Institute for Molecular Genetics in Berlin, decided to study
how huntingtin proteins are made from genes of different lengths.
I will discuss
how huntingtin regulates several steps of mouse embryonic corticogenesis.
Not exact matches
In Huntington's disease, mice carrying the pathologic genetic variant of the
huntingtin gene are being used to understand
how this genetic lesion causes degeneration of striatal neurons and to develop novel treatments for the illness.
Hughes said Mooney employed sophisticated computational methods which allowed researchers to comprehensively analyze the functions or so - called «jobs» of the proteins and networks and
how they might be impacted by the
huntingtin mutation.
«We don't know exactly
how the mutant
Huntingtin gene causes the disease, so the idea is that targeting the gene expression cuts off the problem at its source — preventing it from ever having the potential to act,» said Dr Isalan.
The team's ongoing study is now looking at
how the complete
huntingtin protein, which contains parts in addition to the polyglutamine repeats, aggregates.
«A long - standing mystery among researchers was
how the buildup of this mutant
huntingtin caused cells to degrade and die, but previous technology made it virtually impossible to monitor this process at the cellular level.
In this study, we employed a method called optical pulse - labeling, or OPL, which allowed us to see
how the mutant
huntingtin ravaged the brain over time — neuron by neuron.»
17:34 - Brivanlou:
huntingtin has an influence on the metabolism of embryos - that's
how they use energy & do chemical reactions.
Figuring out
how the mutant
huntingtin protein causes damage is the central problem of Huntington's disease research.
The more we understand about
how the normal and extra-long
huntingtin proteins are made and work in brain cells, the better equipped we'll be in the search for HD treatments.
In addition, he is also studying the normal
huntingtin cellular function in autophagy and
how expansion of the poly - Q repeat may impair this function in HD.
She uses a mouse model of Huntington's disease to study
how brain cells clear away deposits of mutant
huntingtin protein.
But understanding
how the brain develops and works, and «knowing the enemy» - the mutant
huntingtin protein and its damaging effects - are both crucial if we are going to safely and rapidly develop the treatments we're all working towards.
For example, if we block mutant
huntingtin production in cells or animals with «gene silencing» techniques,
how can we confirm that this treatment actually does what it's supposed to do in the brains of patients with HD?
But this new information is an important addition to our knowledge of
how expanded
huntingtin behaves in the brain.
9:17 - The first session is about the
huntingtin protein: what is is, what does it do and
how does it cause harm?