1 Lauren Malicsi

Lauren Malicsi

Mr. Cusumano

Honors Anatomy & Physiology

7 November 2016

Progeria

It seems as if parents are always telling their children to stop growing up too fast. From

first steps and words, to move in day at college, it always seems to go by in a blink of an eye.

Imagine being a parent to a child with Progeria, and having only a number of years to experience

a hand full of milestones. Progeria is an extremely rare and fatal disease, causing rapid growth in

children. The name of this disease is derived from Greek and means prematurely old. This

horrible disease affects approximately 1 in 20 million people and the life expectancy is around

thirteen years old (progeriaresearch.org).

Progeria was first discovered by Dr. Jonathan Hutchinson in 1886. Dr. Hastings Gilford

then made another discovery of it in 1897. The most common type of progeria is called

Hutchinson-Gilford Syndrome, or HGPS, which was named after these two doctors. Children

born with HGPS are born looking healthy. It is not until the first or second year of life when they

are diagnosed. The other form of progeria is called Werners Syndrome. This type of progeria is

commonly known as adult progeria, meaning it does not affect the person until late teens, and

they have a lifespan of between forty and fifty years old.

HGPS is caused by a mutation in the LMNA (lamin-a) gene. Gene Discovery Speeds

Progeria Research states, Scientists have known that LMNA plays an important role in

maintaining the structural integrity of the nucleus, but more recent research on progeria suggests
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that the protein may also be a key player in the cell cycle and in gene expression (Bridget M.

Kuehn). This was a big step in the research process. According to Webmd.com, A single

mistake in a certain gene causes it to make an abnormal protein. When cells use this protein,

called progerin, they break down more easily. Progerin builds up in many cells of kids with

progeria, causing them to grow old quickly (webmd.com). Progerin It was not until 2003 when

the gene that causes progeria was discovered by the Progeria Research Foundation. PRF was

the driving force behind finding the gene responsible for Progeria. A group of leading scientists

from PRFs Genetics Consortium was able to isolate the Progeria gene, and in April 2003, PRF

led the announcement reported in the top scientific journal Naturev (progeriaresearch.org), this

discovery was not only a huge achievement, but it shined light on families affected by this

disease.

In the past, HGPS was diagnosed based on physical symptoms, but now there are genetic

tests available to confirm it. Although a child with Progeria is born looking completely healthy,

drastic physical symptoms start to appear around their second year of life. Symptoms include

slowed growth, meaning below-average height and weight, having a small lower jaw, thin lips, a

beaked nose, prominent eyes, and hair loss, including eyelashes and eyebrows. Skin will tend to

be thin, spotty and wrinkled, just like if they were a senior citizen. Also, their voices are high

pitched (mayoclinic.org). With these physical symptoms, it is very easy to identify a child with

Progeria. There are also several health problems associated with Progeria. Delayed and abnormal

tooth formation is typical. Also, hearing loss, stiff joints, and hip dislocation occur

(mayoclinic.org). In The GALE ENCYCLOPEDIA of GENETIC DISORDERS, Laith Farid

Gulli, MD, and Nicole Mallory, MS, state

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Patients with progeria eventually develop skeletal system (bone and joint) changes.

Patients show characteristic radiographic (x-ray) findings. In general the skeleton is hypoplastic

(underdeveloped). Patients have persistent anterior fontanelles (soft spot of skull in new-born

children). Patients with progeria may also develop deterioration of the collarbone and end of the

fingers. Hip joints are affected because of alteration in the bone structure of the femur (the bones

which extends from the knee upwards to the pelvis). This causes the femur to sit in more of a

straight-line relationship to the hip joint. This is abnormal and causes a wide-based gait

(walking) and the appearance of a horse-riding stance. It is described as coxa valga. Some

patients also show an increase in the amount of Hyaluronic acid secreted in the urine. Hyaluronic

acid is a substance in the body that is found in tissues such as cartilage. Cartilage is a flexible

connective tissue that works as a joint stabilizer(954).

With these multiple symptoms of progeria patients, it only makes life harder to enjoy.

Although there is no cure for progeria, there are different medications and therapies used

to help stabilize health. Many doctors will prescribe drugs to lower cholesterol or prevent blood

clots. Aspirin is prescribed to prevent heart attacks, and growth hormones are used to increase

height and weight. It is common for patients to go to physical or occupational therapy on a

regular basis for stiff joints and hip problems. With heart attacks and strokes being the most

common way progeria patients pass away, many undergo bypass surgery or angioplasty to slow

the progression of heart disease. Even with no cure, there is treatment hope. Researchers have

been working on ways to treat progeria. According to Progeria: Causes, Symptoms &

Treatments, Farnesyltransferase inhibitors (FTIs), currently used for treating cancer, might

reverse the nuclear structure abnormalities that are believed to cause Progeria. Studies carried out
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on mice with Progeria-like signs and symptoms showed that FTIs appeared to offer some

improvements (Nordqvist). In September 2012, the results were released for the first clinical

drug trial treatment for children with progeria, and it showed significant improvements in bone

structure, weight gain, and the cardiovascular system (Nordqvist). These are just the first of

many steps being taken to finding a reliable treatment for progeria.

There are approximately 350-400 people living with progeria worldwide at any given

time. There has been discoveries of children with progeria in fifty-two different countries.

Progeria does not affect one sex more than the other, nor the race (progeriaresearch.org). The

GALE ENCYCLOPEDIA of GENETIC DISORDERS states,

Evidence suggested that the gene for progeria may be located on chromosome 1.

Progeria is believed to be passed on in an autosomal dominant new mutation fashion. The

disorder is transmitted to children by autosomal dominant inheritance. This means that either

affected parent (mother or father) has a 50% chance of having a child (regardless of gender) with

the disorder (953).

With this fact, it is clear that progeria does not affect one gender more than the other. It is

completely random.

When you are younger, there is always such an urge to want to grow up before it is time,

but patients with progeria do not have a choice whether it is time to grow up or not. Live in the

moment because before you know it, you will be aging too.
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Citations

The Gale Encyclopedia of Genetic Disorders. Detroit, MI: Gale Group, 2002. Print.

Medical News Today. MediLexicon International, n.d. Web. 06 Nov. 2016.

"Progeria | Genetic and Rare Diseases Information Center(GARD) an NCATS Program." U.S

National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 06 Nov. 2016.

Staff, By Mayo Clinic. "Progeria." - Mayo Clinic. N.p., n.d. Web. 06 Nov. 2016.

"Progeria: Causes, Symptoms, and Treatments." WebMD. WebMD, n.d. Web. 06 Nov. 2016.

Kuehn BM. Gene Discovery Speeds Progeria Research. JAMA. 2006;295(8):876-878.

doi:10.1001/jama.295.8.876
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