HISTORY

Progeria was first described in 1886 by Jonathan Hutchinson. It was also described
independently in 1897 by Hastings Gilford. Progeria is also known as "Benjamin Button
Disease". The condition was later named Hutchinson–Gilford progeria syndrome. The
word progeria comes from the Greek words "pro", meaning "before" or "premature", and
"gēras" meaning "old age". Scientists are interested in progeria partly because it might reveal
clues about the normal process of aging.

NATURE OF THE DISEASE

Progeria, any of several rare human disorders associated with premature aging. The
two major types of progeria are Hutchinson-Gilford progeria syndrome (HGPS), which has
its onset in early childhood, and Werner syndrome (adult progeria), which occurs later in life.
A third condition, Hallerman-Streiff-François syndrome, is characterized by the presence of
progeria in combination with dwarfism and other features of abnormal growth. Progeria is
extremely rare; for example, the global incidence of Hutchinson-Gilford progeria syndrome is
approximately one in every four to eight million births.
Initially, progeria was studied as a model of normal aging, but, because not all organs
are affected, this is no longer thought to be appropriate. There is, for example, no evidence of
senility or of aging in the central nervous system. There is some experimental evidence
suggesting that treatment with a drug known as N-acetylcysteine could slow the aging
process associated with Hutchinson-Gilford progeria syndrome.

CAUSES AND SYMPTOMS

Progeria is caused by mutations that weaken the structure of the cell nucleus, making
normal cell division difficult. The histone mark H4K20me3 is involved in Hutchinson-
Gilford Progeria syndrome caused by de novo mutations that occurs in a gene that
encodes lamin A. Lamin A is made but isn't processed properly. This poor processing creates
an abnormal nuclear morphology and disorganized heterochromatin. Patients also don't have
appropriate DNA repair, and they also have increased genomic instability.

A newborn with progeria looks healthy, but by the age of between 10 months and 24
months, features of accelerated aging start to appear.

Signs of progeria include:

 limited growth and short stature

 lack of body fat and muscle
 loss of hair, including eyelashes and eyebrows
 early signs of skin aging, including thin skin
 stiffness in the joints
  visible veins
 stroke
 narrow, wrinkled, or shrunken face
 a head that is large compared with the body
 a small jaw bone
 slow and abnormal tooth development
 a high-pitched voice
 limited range of motion and possible hip dislocation
 generalized atherosclerosis, leading to cardiovascular and heart disease

TREATMENT
There is no cure for progeria, but occupational and physical therapy can help the child
keep moving if their joints are stiff. Heart health is critical for people with progeria, so the
doctor may prescribe statins, nitroglycerin for angina, and routine therapy for
congestive heart failure. Eating healthily and getting regular exercise are important. Some
patients may have cardiac surgery to slow the progression of heart disease. Self-care tips may
include eating different foods when the lipid, or fat, profile begins to change, and eating small
meals regularly to maximize calorie intake. Sun screen is important for protecting the skin,
and padding in shoes can help minimize discomfort caused by a lack of fat padding on the
body.

PICTURES
GENETIC
DISEASE

P ROGERIA
ELLEN ROSE ERNESTO
12 – NUESTRA SEÑORA DELA SALUD