| HD-MAPS is an ongoing study being coordinated
by Dr.
Richard H. Myers at Boston University School of
Medicine. The study is funded by the National Institutes
of Health, The Huntington’s Disease Society of
America and the Jerry MacDonald HD Research fund. While
the HD gene has been identified and we understand the
molecular defect that leads to HD, there is strong evidence
that other genes influence the age at which an individual
will begin to develop symptoms of HD. The goal of the
HD-MAPS study is to identify the genes that modify the
age of onset of HD. By understanding the biological
modifiers of onset, the researchers may be able to develop
methods to delay the onset for others as a form of treatment
for HD.
Using a sample of HD diagnosed sibling pairs, as well
as larger families with multiple members with HD, and
with known ages at onset, the HD-MAPS study has identified
four different chromosomal regions that may contain
genes that modify the age when an individual will develop
HD. Two of these regions are on chromosome 6, one is
on chromosome 18 and the fourth is at or near the position
of the HD gene itself on chromosome 4.
A number of publications have already resulted from
this study and are listed below.
- Li J-L, Hayden M, Almqvist EW, Brinkman R, Durr
A, Dode C, Morrison PJ, Suchowersky O, Ross C, Margolis
R, Rosenblatt A, Gómez-Tortosa E, Mayo Cabrero
D, Novelletto A, Frontali M, Nance M, Trent RJA, McCusker
E, Jones R, Paulsen J, Harrison M, Zanko A, Abramson
R, Russ A, Knowlton B, Djoussé L, Mysore JL,
Tariot S, Gusella MF, Wheeler VC, Atwood LD, Cupples
LA, Saint Hilaire M, Cha J-H, Hersch SM, Koroshetz
WJ, Gusella JF, MacDonald ME, Myers RH. A Genome Scan
for Modifiers of Age at Onset in Huntington's disease:
The HD MAPS Study. American Journal of Human Genetics
2003; 73:682-687.
- Djoussé L, Knowlton B, Hayden M, Almqvist
EW, Brinkman R, Ross CA, Margolis R, Rosenblatt A,
Durr A, Dode C, Morrison PJ, Novelletto A, Frontali
M, Trent RJA, McCusker E, Gómez-Tortosa E,
Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky
O, Paulsen J, Harrison M, Yang Q, Cupples LA, Mysore
J, Gusella JF, MacDonald ME, Myers RH. Evidence for
a Modifier of Onset Age in Huntington's Disease Linked
to the HD Gene in 4p16. Neurogenetics (epub
March 17, 2004).
- Djoussé L, Knowlton B, Hayden M, Almqvist
EW, Brinkman R, Ross CA, Margolis R, Rosenblatt A,
Durr A, Dode C, Morrison PJ, Novelletto A, Frontali
M, Trent RJA, McCusker E, Gómez-Tortosa E,
Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky
O, Paulsen J, Harrison M, Yang Q, Cupples LA, Mysore
J, Gusella JF, MacDonald ME, Myers RH. Interaction
of normal and expanded CAG repeat sizes influences
age at onset of Huntington disease. American Journal
of Medical Genetics 2003; 119A(3): 279-82
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