VISIBLE SIGNS :
• LONG ARMS, LEGS AND FINGERS
• TALL AND THIN BODY TYPE
• CURVED SPINE
• CHEST SINKS IN OR STICKS OUT
• FLEXIBLE JOINTS
• FLAT FEET
• CROWDED TEETH
• STRETCH MARKS ON THE SKIN THAT ARE
NOT RELATED TO WEIGHT GAIN OR LOSS
NON-VISIBLE SIGNS :
• SUDDEN LUNG COLLAPSE
• AORTIC ENLARGEMENT
• SEVERE NEAR-SIGHTEDNESS
• DISLOCATED LENS OR RETINE
• DETACHED RETINA
• EARLY GLAUCOMA AND CATARACTS
MARFAN SYNDROME IS AUTOSOMAL
DOMINANT. 75% OF CASES ARE
INHERITED WHILE OTHER 25% ARE FROM
SPONTANEOUS MUTATIONS. THERE IS A
50% CHANCE THAT A PERSON WITH
MARFAN SYNDROME WILL PASS ALONG
THE GENETIC MUTATION EACH TIME THEY
HAVE A CHILD.
MARFAN SYNDROME IS CAUSED BY
MUTATION IN CHROMOSOME 15 ON
FBN1 GENE. THE FBN1 GENE PROVIDES
DEFINITION INSTRUCTIONS FOR MAKING A LARGE
PROTEIN CALLED FIBRILLIN-1. IN
Marfan syndrome is a genetic disorder that affects the NORMAL CONDITION, MOLECULES OF
body’s connective tissue. Connective tissue holds all FIBRILLIN-1 BIND TO EACH OTHER AND
the body’s cells, organs and tissue together. It also TO OTHER PROTEINS TO FORM
THREADLIKE FILAMENTS CALLED
plays an important role in helping the body grow and
MICROFIBRILS. MICROFIBRILS STORE A
develop properly.
PROTEIN CALLED TRANSFORMING
GROWTH FACTOR BETA (TGF-Β) THAT
CONTROLS THE PROLIFERATION,
DIFFERENTIATION, MOTILITY AND
APOPTOSIS OF CELLS. TGF-Β IS
SIGNS AND HOW IT INACTIVATED WHEN STORED IN
SYMPTOMS HAPPENS MICROFIBRILS AND ACTIVATED WHEN
RELEASED. THE MUTATIONS THAT
CAUSE MARFAN SYNDROME CHANGE A
SINGLE AMINO ACID IN THE FIBRILLIN-1
PROTEIN RESULTING IN AN ABNORMAL
FIBRILLIN-1 PROTEIN THAT CANNOT
FUNCTION PROPERLY, THUS REDUCING
MARFAN
THE AMOUNT OF FIBRILLIN-1
PRODUCED BY THE CELL, ALTER THE
STRUCTURE OR STABILITY OF
FIBRILLIN-1 OR IMPAIR THE
SYNDROME
TRANSPORT OF FIBRILLIN-1 OUT OF
THE CELL. THIS CAUSES EXCESS TGF- Β
TO BE ACTIVATED AND ELASTICITY IN
MANY TISSUES IS DECREASED,
LEADING TO OVERGROWTH AND
INSTABILITY OF TISSUES.
PATTERN OF LOCATION OF
INHERITANCE DEFECTS
Orion is a prominent constellation located on the celestial equator and visible throughout the world.