|Researchers Develop First Transgenic Monkey
Model of Huntington’s Disease
Experts See Model as Tool to Better Understand the Disease, Develop
Therapies, and Lead the Way to Similar Models for Other Genetic Diseases
Scientists have developed the first genetically altered monkey
model that replicates some symptoms observed in patients with Huntington's
disease, according to a new study funded by the National Institutes
of Health. Researchers are now able to better understand this complex,
devastating and incurable genetic disorder affecting the brain.
This advance, reported in the May 18 advance of online publication
edition of Nature, could lead to major breakthroughs in the effort
to develop new treatments for a range of neurological diseases.
Huntington’s is an inherited disease caused by a defective gene
that triggers certain nerve cells in the brain to die. Symptoms
may include uncontrolled movements, mood swings, cognitive decline,
balance problems, and eventually losing the ability to walk, talk
or swallow. It affects five to 10 people in every 100,000. There
is no known treatment to halt progression of the disease, only
medications to relieve symptoms. Death typically occurs 15 to 20
years after onset.
This study marks the first time that researchers have developed
a rhesus macaque model of a specific human disease using transgenic
technologies, a marked improvement over mouse models. Transgenic
animals are created using a recombinant DNA method to modify a
"This research allows scientists to advance beyond mouse
models which do not replicate all of the changes in the brain and
behavior that humans with Huntington’s disease experience," said
John D. Harding, Ph.D., director of primate resources at the NIH’s
National Center for Research Resources (NCRR), which funded the
study. "Primate models better mirror human diseases and are
a critical link between research with small laboratory animals
and studies involving humans."
To unravel the genetic components of this disease, NIH-supported
researchers Anthony W.S. Chan, D.V.M., Ph.D.; Xiao-Jiang Li, M.D.,
Ph.D.; and Shi-Hua Li, M.D., Ph.D., collaborated with their colleagues
at the Yerkes National Primate Research Center and other components
of Emory University in Atlanta. The research was supported by the
NCRR and the National Institute of Neurological Disorders and Stroke
(NINDS) at NIH.
The Emory research team developed this transgenic monkey model
by introducing altered forms of the Huntington gene into monkey
eggs using a viral vector. The eggs were fertilized and the resulting
embryos were introduced into surrogate mothers, resulting in five
live births. The investigators are now studying the onset of the
disease and its behavioral and cognitive effects, with the goal
of using the monkey model to better understand disease mechanisms
and to design therapies.
"Genetic advances make it easy to identify who has inherited
the disease gene," said Walter Koroshetz, M.D., deputy director
of the NINDS. "Now, with a primate model of Huntington’s disease,
we are one large step closer to finding better treatments for people
with the disease as well as those destined to develop it."
The Yerkes primate center where this advance was made is one of
eight supported by NCRR. The centers provide leadership, training
and resources to foster scientific discovery and compassionate,
quality animal care. Last year, the eight centers located around
the country supported more than 2,000 researchers studying a wide
range of diseases using non human primate models.
"Yerkes primate center is an ideal place to carry out this
work because of its expertise in nonhuman primate transgenesis,
non-invasive neural imaging, and experience with behavior assessment," said
For more information about Huntington’s disease, visit: www.ninds.nih.gov/disorders/huntington/huntington.htm.
NCRR, a part of NIH, provides laboratory scientists and clinical
researchers with the resources and training they need to understand,
detect, treat and prevent a wide range of diseases. NCRR supports
all aspects of translational and clinical research, connecting
researchers, patients, and communities across the nation. For more
information, visit www.ncrr.nih.gov.
The NINDS (www.ninds.nih.gov)
is the nation’s primary supporter of biomedical research on the
brain and nervous system.
The National Institutes of Health (NIH) — The Nation's
Medical Research Agency — includes 27 Institutes and
Centers and is a component of the U.S. Department of Health and
Human Services. It is the primary federal agency for conducting
and supporting basic, clinical and translational medical research,
and it investigates the causes, treatments, and cures for both
common and rare diseases. For more information about NIH and
its programs, visit www.nih.gov.