MARFAN SYNDROME

Marfan syndrome is a genetic condition that affects connective tissues. It can impact
different parts of the human body, including the heart, blood vessels, lungs, skin, bones, joints,
and eyes. About 1 in 5,000 people have Marfan syndrome, including men and women of all races
and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get
the genetic mutation from a parent who has it.

CAUSE

Marfan syndrome is hereditary, which means it can be passed to a child from a parent
who's affected.

In around three-quarters (75%) of cases, Marfan syndrome is inherited from one parent.
The syndrome is autosomal dominant, which means a child can inherit it even if only one parent
has the syndrome. There's therefore a one in two (50%) chance that the child of a parent with
Marfan syndrome will inherit the syndrome.

Connective tissue holds all the body’s cells, organs and tissue together. It also plays an
important role in helping the body grow and develop properly. Connective tissue is made up of
proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome
is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.

This affect only a single

nucleotide and is usually the result
of an mismatch error in S phase of
Interphase. It is also called a point
mutation. The name of the gene
that is causing Marfan syndrome is
FBN1.  This encodes the protein
fibrillin.  A mutation in the FBN1
gene can reduce the amount of
functional fibrillin-1 that is
available to form microfibrils,
which leads to decreased
microfibril formation. As a result,
microfibrils cannot bind to growth
factors, so excess growth factors
are available and elasticity in
many tissues is decreased, leading
to overgrowth and instability of
tissues in Marfan syndrome. The gene defect leads to abnormal production of a protein called
fibrillin, resulting in parts of the body being able to stretch abnormally when placed under any
kind of stress.
 In the remaining
quarter (25%) of cases, neither parent has the syndrome. In these cases, the fibrillin gene changes
(mutates) for the first time in the parent's egg or sperm. The mutated gene can be passed on to the
child, who will then go on to develop the syndrome.

SYMPTOMS (Features)

As Marfan syndrome can affect various parts of the body, the symptoms can vary greatly
between people. Different people with Marfan syndrome will demonstrate different symptoms.

Signs and symptoms that may appear in the skeletal system include:

 long limbs with thin and weak wrists

 stooped shoulders
 very long and slender fingers and toes, or both
 long and narrow face
 small bottom jaw that may cause speech disorders
 overcrowded teeth
 slim body and taller than average height
 flat feet
 high palate that may cause speech disorders
 stretch marks on the skin not due to pregnancy or weight gain
 pain in the joints, bones, and muscles

The long limbs unique to Marfan syndrome often mean that the arm span of the individual is
longer than their height.

Problems related to the eyes include:

 nearsightedness
 astigmatism
 dislocation of the lens
  detached retina

The aortic irregularities in Marfan syndrome can lead to the following cardiac issues:

 fatigue
 shortness of breath
 palpitations or heart murmur
 dilated aorta

DIAGNOSIS/ TREATMENT

Diagnosing Marfan syndrome can be challenging, given the range of symptoms.

The physician will:

 ask about the patient's family and medical history

 listen to the patient's heart
 check the skin for stretch marks
 look at the length and features of the patient's arms, legs, fingers, and toes

Typical exams include:

 an echocardiogram, which is used to examine your aorta for enlargement, tears, or

aneurysms (bubble-like swelling due to weakness in the walls of the artery)
 an electrocardiogram (EKG), which is used to check your heart rate and rhythm
 a magnetic resonance imaging (MRI) test, which is performed in some people to look for
lower back problems
 an eye exam, which allows your doctor to examine the overall health of your eyes, to test
how acute your sight is, and to screen for cataracts and glaucoma.

Marfan’s syndrome can’t be cured. Treatments typically focus on lessening the impact of various
symptoms.
INSIGHTS/ REFLECTION

In this activity, we have acquired more knowledge about genetic disorders. A cell cycle is
truly critical that when an error occurred in the cell cycle, there will be an effect on the offspring
of parents. Just by a single mistake during the process, there will be a big impact to the offspring.
Every process is important that’s why there’s a need for checkpoint in every phase. We realized
that it takes time to fully grasp the cause of a disease or syndrome. We can’t just understand it
ina blink of an eye and so we research more, we find more pieces of information and we find
illustrations that can make us fully understand the process.

We now truly understand the Marfan syndrome. The causes, symptoms (features) and
diagnosis or treatment of the syndrome. Knowing all those information, we can be more sensitive
to the people around us especially with people born with genetic disorders. We also think that we
are lucky to be normal without syndromes or disorders and that we have to appreciate everything
that we have because there are people who have limits already before they were born because of
a mutation in cell cycle.
WRITTEN REPORT
(GENETIC DISORDER)

Debbie Ellaine Cabagte

Olivia Dela Cruz
Mekaella Pascua
12-Equinox