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help scientists gain new knowledge, the NIAMS also has established
Specialized Centers of Research devoted specifically to lupus research.
In addition, the NIAMS is funding several lupus registries that
will gather medical information as well as blood and tissue samples
from patients and their relatives. This will give researchers across
the country access to information and materials they can use to
help identify genes that determine susceptibility to the disease.
Identifying
genes that play a role in the development of lupus is an active
area of research. For example, researchers suspect a genetic defect
in a cellular process called apoptosis, or "programmed cell death,"
in people with lupus. Apoptosis is similar to the process that causes
leaves to turn color in autumn and fall from trees; it allows the
body to eliminate cells that have fulfilled their function and typically
need to be replaced. If there is a problem in the apoptosis process,
harmful cells may stay around and do damage to the body's own tissues.
For example, in a mutant mouse strain that develops a lupus-like
illness, one of the genes that controls apoptosis is defective.
When it is replaced by a normal gene, the mice no longer develop
signs of the disease. Scientists are studying what role genes involved
in apoptosis may play in human disease development.
Studying
genes for complement, a series of proteins in the blood that play
an important part in the immune system, is another active area of
lupus research. Complement acts as a backup for antibodies, helping
them destroy foreign substances that invade the body. If there is
a decrease in complement, the body is less able to fight or destroy
foreign substances. If these substances are not removed from the
body, the immune system may become overactive and begin to make
autoantibodies.
Recent
large studies of families with lupus have identified a number of
genetic regions that appear to confer risk of SLE. Although the
specific genes and their function remain unknown, intensive work
in delineating the entire human genome offers promise that these
genes will be identified in the near future. This should provide
knowledge of the fundamental nature of the risk factors that can
lead to lupus and new insights into how these risks can be modified.
It
is thought that autoimmune diseases, such as lupus, occur when a
genetically susceptible individual encounters an unknown environmental
agent or trigger. In this circumstance, an abnormal immune response
can be initiated that leads to the signs and symptoms of lupus.
Research has focused on both the genetic susceptibility and the
environmental trigger. Although the environmental trigger remains
unknown, microbial agents such as Epstein-Barr virus and others
have been considered. Researchers also are studying other factors
that may affect a person's susceptibility to lupus. For example,
because lupus is more common in women than in men, some researchers
are investigating the role of hormones and other male-female differences
in the development and course of the disease.
A
current study funded by the NIH is focusing on the safety and effectiveness
of oral contraceptives (birth-control pills) and hormone replacement
therapy in women with lupus. Doctors have worried about the wisdom
of prescribing oral contraceptives or estrogen replacement therapy
for women with lupus because of a widely held view that estrogens
can make the disease worse. However, recent limited data suggest
these drugs may be safe for some women with lupus. Researchers hope
this study will yield options for safe, effective methods of birth
control for young women with lupus and enable
postmenopausal women with lupus to benefit from estrogen replacement
therapy.
Promising
Areas of Research
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Identifying lupus susceptibility genes
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Searching for environmental agents that cause lupus
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Developing drugs or biologic agents that cure lupus
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Researchers
are also focusing on finding better treatments for lupus. A primary
goal of this research is to develop treatments that can effectively
minimize the use of corticosteroids. Scientists are trying to identify
combination therapies that may be more effective than single-treatment
approaches. Researchers are also interested in using male hormones,
called androgens, as a possible treatment for the disease. Another
goal is to improve the treatment and management of lupus in the
kidneys and central nervous system. For example, a 20-year study
supported by the NIAMS and the NIH found that combining cyclophosphamide
with prednisone helped delay or prevent kidney failure, a serious
complication of lupus.
On
the basis of new information about the disease process, scientists
are using novel "biologic agents" to selectively block parts of
the immune system. Development and testing of these new drugs, which
are based on compounds that occur naturally in the body, comprise
an exciting and promising new area of lupus research. The hope is
that these treatments not only will be effective, but also will
have fewer side effects. Other treatment options currently being
explored include reconstructing the immune system by bone marrow
transplantation. In the future, gene therapy also may play an important
role in lupus treatment.
Hope
for the Future
With
research advances and a better understanding of lupus, the prognosis
for people with lupus today is far brighter than it was even 20
years ago. It is possible to have lupus and remain active and involved
with life, family, and work. As current research efforts unfold,
there is continued hope for new treatments; improvements in quality
of life; and, ultimately, a way to prevent or cure the disease.
The research efforts of today may yield the answers of tomorrow,
as scientists continue to unravel the mysteries of lupus.
Additional
Resources
Alliance
for Lupus Research, Inc.
1270 Avenue of the Americas, Suite 609
New York, NY 10020
(212) 218-2840
The
Alliance for Lupus Research, Inc. (ALR), is a nonprofit organization
devoted exclusively to the support of promising research for the
prevention, treatment, and cure of lupus. Through accelerated, focused,
goal-oriented research programs, the ALR aims to promote basic and
clinical sciences to achieve major advances leading to a better
understanding of the cause of lupus. Additional
information and research updates can be found on the NIAMS Web site
at http://www.niams.nih.gov
National Institute of Arthritis and Musculoskeletal
and Skin Diseases Information Clearinghouse
NIAMS/National Institutes of Health
1 AMS Circle
Bethesda, MD 20892-3675
This
is a publication of the National Institutes of Health
NIH Publication No. 97-4178
Lupus
Foundation of America (LFA), Inc.
1300 Piccard Drive, Suite 200
Rockville, MD 20850
(301) 670-9292
(800) 558-0121
Web address: http://www.lupus.org
This is the main voluntary organization devoted to lupus. The LFA
assists local chapters in providing services to people with lupus,
works to educate the public about lupus, and supports lupus research.
Through a network of more than 500 branches and support groups,
the chapters provide education through information and referral
services, health fairs, newsletters, publications, and seminars.
Chapters provide support to people with lupus, their families, and
friends through support group meetings, hospital visits, and telephone
help lines.
SLE
Foundation, Inc.
330 Seventh Avenue, Suite 1701
New York, NY 10001
T: 212.685.4118 or
800.74.LUPUS (toll free)
Web
address: http://www.lupusny.org
The foundation supports and encourages medical research to find
the cause and cure of lupus and improve its diagnosis and treatment.
It also provides a wide variety of services to help patients with
lupus and their families. In addition, this voluntary organization
conducts a broad-based public education program to raise awareness
of lupus and increase understanding of this serious, chronic, autoimmune
disease.
Part
1 - Lupus: Symptoms, Causes and Alternative
Treatments
Part 2 - Diagnosing Lupus
Part 3 - Current Research
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