Progeria is not inherited; it is caused by a mutation of the LMNA gene, which alters a type of protein, causing certain cells to die prematurely. Progeria was discovered in 1886 by Jonathan Hutchinson. He documented features of a boy aged 6 years the absence of the hair and atrophy of the skin. The meaning of progeria “geras” is the Greek word for old age. The oldest person to live with progeria died at 26 years old.
Progeria is a rare syndrome in children where they physically grow old then they are. Normally kids with progeria die at a young age. Progeria, also known as Hutchinson – Gilford syndrome, is a genetic condition that causes its victims to age prematurely. Although it is rare, the idea has surfaced in many pieces of literature and films in popular culture.
Progeria syndrome is a genetic condition that presents with symptoms of aging while children are still young. It is extremely rare. Those born with the disease typically live through their mid-teenage years or early twenties.
A slightly older movie, “Jack,” features a boy who ages and grows at 4 times the normal rate, although this is not actually how progeria progresses. Hayley Okines is a real child living with progeria who is known for her attempts to spread awareness of the disease.
Progeria is not an inherited condition which can pass down from mother to their child. Instead mutations in the LMNA gene randomly occur most probably in a single sperm or egg immediately prior to the time of conception.
The mutation in a gene, the gene is called LMNA codes for two proteins; lamin A and lamin C. The mutation lamin a protein that causes Progeria is called Progerin. Progerin makes the nucleus unstable.
What happens to the body?
- Growth Failure
- Loss of Body Fat
- Aged-looking Skin
- Shiftiness in Joints
Who Does Progeria Effect:
It affects kids all around the world. It affects 1 out of 4-8 million newborns as they know of 250 are in the world today.
One of the first symptoms that appear is a skin condition. As infant ages, limited growth and distinctive facial features become apparent. Fragile bodies, wrinkled skin, and a large head are also characteristic of this disease.
- Aged Appearance
- Short Stature
Treatment: As of now trails are still being ran doctors and researchers are looking for the cure. But these three drugs are currently being studied in treatment trial for progeria:
- Farnesyltransferase Inhibitor (FTI)
- A statin called Pravastatin
- A bisphosphonate called Zoledronic Acid
Progeria syndromes a premature aging phenotype increased genome instability. The susceptibility to DNA damages a rises from a compromised repair system they repair proteins themselves, or in the DNA damage response pathways.