LUPUS

EARL EUGENE CASTRO -AB BIOLOGY 4

GENETICS

Reporter ： *** Date ： 2020.28.12

 01 LUPUS: Definition

02 Signs and Symptoms

03 Genetic Cause

LUPUS 04 Genetic Mutation

05 Patient's Data

06 Pedigree Analysis

07 Management of the Disease

08 REFERENCES
 LUPUS
› Lupus is a disease of the immune system
› Our immune system is our body’s defense
against infection and other diseases
› With lupus, our immune system starts to
attack our own body in different ways
› This can lead to inflammation and tissue
damage throughout the body, particularly
in the:
• Joints
• Skin
• Brain
• Lungs
› The exact cause of lupus is unknown
›It is not contagious
What are the signs and symptoms?
› No two cases of lupus are the same
› Symptoms vary, but the most common symptoms of lupus include:
• 50-90% of people with lupus identify fatigue as a main symptom
• Most people with lupus experience unexplained fevers
• Up to 90% of people with lupus will have joint inflammation or swelling
› Depending on the organs affected, patients may experience different
symptoms

Fatigue Malar (Butterfly) Hair Loss

Unexplained Fever Rash Joint Swelling

GENETIC CAUSE
Defective apoptotic clearance allows deposition of
immune complexes which can stimulate B and T cells.
Hyperactive B cells then produce auto-antibodies which
activate complement, causing tissue damage.
Plasmacytoid dendritic cells (pDCs) activated by
immune complexes then release excessive
interferon α/β (IFNα/β), again causing tissue
damage. At each pathway, the known associated loci
are indicated.
https://arthritis-research.biomedcentral.com/articles/10.1186/ar3844
All of the loci produce loss of both self-tolerance and autoimmunity, as seen
in SLE. APC, antigen-presenting cell; BANK1, B-cell scaffold protein with
ankyrin repeats 1; BLK, B lymphoid tyrosine kinase; HLA-DRB1, human
leukocyte antigen-DRB1; IFIH1, interferon-induced helicase 1; IL10,
interleukin-10; IRF, interferon regulatory factor; ITGAM, integrin, alpha M;
LYN, V-yes-1 Yamaguchi sarcoma viral-related oncogene homolog; MHC,
major histocompatibility complex; Mφ, microphage; NCF2, neutrophil
cytosolic factor 2;
PRDM1-ATG5, PR domain containing 1, with ZNF
domain-autophagy-related 5 homolog; PTPN22,
protein tyrosine phosphatase, non-receptor type
22; RasGRP3, RAS guanyl releasing protein 3;
STAT4, signal transducer and activator of
transcription 4;
T-cell receptor; TNFAIP3, tumor necrosis factor,
alpha-induced protein 3; TNFSF4, tumor necrosis
factor superfamily, member 4; TNIP1, TNFAIP3-
interacting protein 1; UBE2L3, ubiquitin-
conjugating enzyme E2L 3.
GENETIC MUTATION
In Nature Genetics, lead author
Min Ae Lee-Kirsch, M.D., from
the Technische Universität
Dresden in Dresden, Germany,
and colleagues report finding
variations of the TREX1 gene
discovered by Perrino in patients
with systemic lupus
erythematosus. The study
involved 417 lupus patients from
the United Kingdom and
Germany. Mutations were found
in nine patients with lupus and
were absent in 1,712 people
without lupus.
In recent years, the gene was also
linked to Aicardi-Goutieres
syndrome, a rare neurological
disease that causes death in
infants, and to chilblain lupus, an
inherited disease associated with
painful bluish-red skin lesions
that occur during cold weather
and usually improve in summer.
The current research also links it
to Sjogren's syndrome, a form of
lupus.
The diseases are all autoimmuine
diseases, which means that the
body makes antibodies against
itself. In lupus, these antibodies
cause pain and inflammation in
various parts of the body,
including the skin, joints, heart,
lungs, blood, kidneys and brain.
The disease is characterized by
pain, heat, redness, swelling and
loss of function.
GENETIC MUTATION

The gene manufactures a protein,

also known as TREX1, whose
function is to "disassemble" or
"unravel" DNA, the strand of
genetic material that controls
processes within cells. The
"unraveling" occurs during the
natural process of cells dying and
being replaced by new cells. If a
cell's DNA isn't degraded or
unraveled during cell death, the
body develops antibodies against
it. "If the TREX1 protein isn't
working to disassemble the DNA,
you make antibodies to your own
DNA and can end up with a
disease like lupus,"

Wake Forest University Baptist Medical Center. "Genetic Mutations Linked To Lupus." ScienceDaily.
ScienceDaily, 1 August 2007. <www.sciencedaily.com/releases/2007/07/070730092501.htm>.
INHERITANCE PATTERN
 Lupus and other autoimmune disorders tend to run in families, but the
inheritance pattern is usually unknown. People may inherit a gene variation that
increases or decreases the risk of Lupus, but in most cases do not inherit the
condition itself. Not all people with lupus have a gene variation that increases
the risk, and not all people with such a gene variation will develop the disorder.

In rare cases, Lupus can be inherited in an inheritance pattern, which means both copies of
the gene in each cell have mutations. The parents of an individual with an autosomal
recessive condition each carry one copy of the mutated gene, but they typically do not show
signs and symptoms of the condition.
Patient's Data

Via Bianca Devila

20 years old
Female
PEDIGREE ANALYSIS

i
Male

Female

ii Infected

Possible infected
• The pedigree analysis show from the parents of the patient and her si
blings. In that case, the Father of the patient is possible have the lupu
s disorder. There are 2 sibling in the family that acquired the disease,
unfortunately, her sister died at early age of 16 years old because of s
ame disease. She also acquired it. The patient''s undergo with medica
tions just once in every 3 months unlike in several months she was dia
gnosed 3 times in every month.
MANAGEMENT OF THE DISEASE
The best way to keep your lupus under control is by following your treatment plan and taking care of your
self. These steps can help.

• Learn how to tell that a flare is coming.

• See your doctors regularly.
• Reduce stress by setting realistic goals for yourself.
• Limit the time you spend in the sun and in fluorescent and halogen light.
• Choose healthy foods most of the time.
• Get enough sleep and rest.
• Exercise moderately with your doctor’s OK and when you’re feeling up to it.
• Build a support system made up of people you trust and can go to for help.
• Despite your best efforts to follow your treatment plan and take good care of yourself, you may have ti
mes when your lupus symptoms are worse. Talk to your doctor or nurse about ways to relieve symptom
s when this happens.
Source URL: https://www.womenshealth.gov/lupus/living-lupus
Source Agency: Office on Women's Health (OWH)
MANAGEMENT OF THE DISEASE
The best way to keep your lupus under control is by following your treatment plan and taking care of your
self. These steps can help.

• Learn how to tell that a flare is coming.

• See your doctors regularly.
• Reduce stress by setting realistic goals for yourself.
• Limit the time you spend in the sun and in fluorescent and halogen light.
• Choose healthy foods most of the time.
• Get enough sleep and rest.
• Exercise moderately with your doctor’s OK and when you’re feeling up to it.
• Build a support system made up of people you trust and can go to for help.
• Despite your best efforts to follow your treatment plan and take good care of yourself, you may have ti
mes when your lupus symptoms are worse. Talk to your doctor or nurse about ways to relieve symptom
s when this happens.
Source URL: https://www.womenshealth.gov/lupus/living-lupus
Source Agency: Office on Women's Health (OWH)
 REFERENCES

https://medlineplus.gov/genetics/condition/sy
stemic-lupus-erythematosus/#references
subtitle
https://www.cdc.gov/lupus/basics/managing.htm

https://www.sciencedaily.com/releases/2
007/07/070730092501.htm
https://arthritis-
research.biomedcentral.com/articles/10.1186/ar3844
 2019

THANK YOU ！
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Reporter ： *** Date ： 2019.4