The Marker - 2004 - Huntington's Disease Society of America

Renewing Fellowships
2003-2004
Michael Cyr, Ph.D.
Duke University
Durham, NC
Dopamine System and Its
Contributing Role in the
Development of Pathological
Conditions in Huntington’s Disease
Lac Djousse, M.D.
Boston University School of Medicine
Boston, MA
A Genome Scan for Genetic
Modifiers of Huntington’s Disease
HDSA Therapeutic
Initiative
Steven M. Finkbeiner, M.D., Ph.D.
Gladstone Institute of Neurological
Disease
San Francisco, CA
PolyQ Conformation-Based Drug
Screen
Susan Lindquist, Ph.D.
Whitehead Institute for Biomedical
Research
Boston, MA
Yeast as a Model System for
Huntingtin-Mediated Toxicity
HDSA Therapeutic
Initiative
Nancy Muma, Ph.D.
Loyola University
Chicago, IL
Therapeutic Targeting of
Transglutaminase for Huntington's
Disease
James Gusella, Ph.D. and
Marcy MacDonald, Ph.D.
Massachusetts General Hospital
Charlestown, MA
PROMPT ASSAY
Christopher A. Meade, Ph.D.
University of Tennessee
Memphis, TN
Does Cortex Kill Striatum in HD? A
Study Using in Oculo Co-Implants
GLOSSARY
Aggregation: the clumping of proteins in
cells that interfere with cell functioning;
aggregation of the huntingtin protein is
seen in HD.
Caspase: an enzyme that induces cell
death (apoptosis).
Cleavage: the degradation of a large,
complex molecule into a smaller one;
cleavage is one example of a posttranscriptional
modification and can be
used to alter the activity of a protein.
CNS (central nervous system): The
central nervous system is the portion
of the nervous system that includes the
brain and the spinal cord. It is through
this region that the brain sends signals
to the rest of the body.
Conformational Changes: when a protein
changes structure.
Gene Transcription: before a gene
becomes a protein, it must go through
several processes. The first step is
called gene transcription and it occurs
when a gene is transcribed into RNA
using nucleic acids.
Huntingtin: the protein encoded by
the gene that carries the HD defect.
Repeated CAG regions in the gene
cause an abnormal form of huntingtin
to be produced.
Organelles: subunits within cells that
carry out a specific function; mitochondria,
for example, are the organelles
that create usable energy for a cell.
Pathogenesis: the development and
progression of disease.
Phosporylation: the addition of phosphates
to a protein; phosporylation is
one example of a post-translational
modification and can be used to alter
the activity of a protein.
Post-translational Modifications: after a
gene is translated into a protein it may
undergo a variety of alterations. These
changes, collectively referred to as
post-translational modifications, alter
the functionality of a protein, sometimes
enabling it to work, other times marking
the protein for degradation.
Proteomics: the study of proteins and
their function.
Ribonucleic Acid (RNA): RNA serves as
the intermediary between DNA and
proteins. DNA is stored in the nucleus,
the organelle frequently referred to as
the “brains” of the cell, while the
machinery needed to produce proteins
remains in the cytoplasm. The cell relies
on RNA to carry the DNA instructions
from the nucleus into the cell’s
cytoplasm.
Signaling Pathway: when a cell needs
to send a message to the nucleus (the
“brain” of the cell where the genes are
located), it must go through a series of
events, much like a dominos game.
This cascade of messages is called a
signaling pathway.
Transcription Regulation: cells require
different proteins depending upon their
stage of development. As a result, cells
will vary which genes undergo transcription
(see gene transcription) at different
times and this process is known as
transcription regulation.
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