In HD research as well as in research on other neurodegenerative diseases
there is an increasing need for human
tissues from brain and peripheral organs and hence tissue banking. Studies in transgenic animal
model of HD resulted in rapidly growing knowledge about the altered
biochemistry of the HD brain and of peripheral organs; these results need to be
systematically compared to observations in humans affected with HD. A
prospectively planned collection of post-mortem tissues (both brain and
peripheral organs) of consenting patients suffering from HD is therefore an important
unmet need.
With the advent of novel molecular biological technologies such as mass
spectrometry, expression profiling, proteomics and (functional) genomics and
their simplified application in pathology and neuropathology, it is timely to set standards concerning the quality of human
post-mortem tissues to be used for the application of these
technologies.
Prospective longitudinal observational studies in HD like REGISTRY will
eventually allow to correlate neuropathological findings with well-characterized
clinical phenotypes and will assist in the validation of biomarkers tracking
the clinical course of HD.
Programs to facilitate the donation of post-mortem tissues and for the
state-of-the-art sampling, processing and storage are underway at an European
level (e.g. BrainNet-Europe.org)
Proposal
This working group should assist Brain Banking for HD by
liaising with European Networks like BrainNet-Europe to overcame the
practical obstacles in realising donation of post-mortem tissues
developing practical protocols for sending fresh donated tissues for
expert dissection and asservation (e.g. similar to the procedures developed by
the Columbia Brain Bank, New York,
NY, enclosed)
preparing a number of dissection protocols to accommodate the
requirements of a range of studies allowing e.g. biochemical and stereological
read-outs
organizing rules and procedures for tissue access (see e.g. the
paperwork used by the Columbia Brain
Bank New York, NY).
In addition, this working group should attempt to survey the
availability and the access to HD tissues stored a various institutions as a
baseline for proposing defined research studies.
Lastly,
the working group should discuss and propose – if appropriate based on the
available tissues – a systematic, cooperative fundable study of certain
neuropathological features in HD brains, e.g. a systematic survey of the
distribution (density and number) of nuclear inclusions throughout the brain.