Progeria

What is Progeria

Hutchinson-Gilford progeria syndrome, also known as

progeria, is a chromosomal disease. People affected by
the disease often have a lifespan of 13 years, although
some live into their 20s.
Above: Tiffany Wedekind of
A mutation in the LMNA gene on chromosome 1 causes Columbus, Ohio, the oldest
survivor of progeria (41 years).
progeria. The LMNA gene produces a protein called
Lamin A/C, which is a key component of nuclear
membrane. When mutated, Lamin A/C is called progerin,
and when cells use this protein, they break down more
easily, leading to rapid aging. This is because the
mutation causes the cell to become unstable.
Causes
● Affects 1 in 20 million people
● Around 350-400 children living with progeria worldwide
● Sex and race do not affect affliction of the disease
● “There are no known factors, such as lifestyle or environmental issues,
which increase the risk of having progeria or of giving birth to a child
with progeria” (Mayo Clinic).
● Progeria is a sporadic autosomal dominant mutation on chromosome 1
○ Sporadic means that it is a new change in the family
○ Dominant means that only 1 copy of the gene needs to be altered to
cause the disorder
○ Autosomal means that it is not on a sex-determining chromosome
Karyotype
The progeria mutation is located on
chromosome 1

The LMNA gene is located

here on chromosome 1.
 Symptoms
● Children with progeria display
symptoms of premature aging.
○ They have a short stature
and lightweight
○ Visible veins
○ Hair loss
○ Wrinkled skin
○ Stiff joints
● Disproportionate body features
○ Underdeveloped jaw
○ Small face in comparison to
head
● Some hearing loss
● Delayed and abnormal tooth
formation
 More Symptoms

● Severe progressive heart and

blood vessel (cardiovascular)
disease
○ Atherosclerosis
■ Severe hardening of
the arteries
● Loss of fat under the skin and
loss of muscle mass
● Skeletal abnormalities and
fragile bones
● Insulin resistance
Treatments
As of now, there is no cure for progeria. Studies and clinical trials are being
conducted to find a cure.

● In November of 2020, the first drug to treat progeria was approved by

the Food and Drug Administration.
● Zokinvy (lonafarnib) extends the lifespan of somebody afflicted with
progeria by an average of 2.5 years.
● The drug relieves the cardiovascular which kills most people afflicted,
but does not treat the other problems accompanying progeria such as a
lack of fat, hair loss, and skeletal issues.
More Treatments
The molecule lonafarnib
(previous slide)

Other treatments

● Aspirin to relieve pain

● Physical and occupational therapy
● Doctors may also prescribe drugs to treat cholesterol levels,
regulate blood pressure, anticoagulants, or medicine to
prevent headaches and migraines.
Life with the Disease
Children with progeria oftentimes just want to lead a
“normal” life. These children wish to partake in activities that
other children their age participate in, but usually need special
accommodations.

In his TED Talk, Sam Berns speaks about how he wanted to

play in his school’s marching band, but was unable to due to the
weight of the instrument being too heavy for this underdeveloped
muscles to support. With help from an engineer, Bern’s family
made adjustments to the snare drum that he wanted to play so
he could carry them while playing. The final product weighed a
mere 6 pounds, compared to the starting weight of 40 pounds.
Sam Berns’ Ted Talk
Familial life

● Parents of children with pretty much any rare disease must pay
expensive medical bills.
● Progeria victims are oftentimes stared at in public.
● People around the children may fear victims or ridicule them.
● Progeria victims have a relatively short lifespan
● Parents are constantly worried about health complications.
Works Cited
Dinov, Borislav, and Gerhard Hindricks. "Ventricular Tachycardia in Patients With Dilated Cardiomyopathy." ScienceDirect, Elsevier B.V., 2018, www.sciencedirect.com/topics/neuroscience/lmna.

Accessed 19 Mar. 2021.

Hamilton, Jon. "Experimental Drug Is First To Help Kids With Premature-Aging Disease." NPR, 24 Sept. 2012, www.npr.org/sections/health-shots/2012/09/25/161691083/experimental-drug-is-first-

to-help-kids-with-premature-aging-disease. Accessed 4 Apr. 2021. used for picture

"Hutchinson-Gilford Progeria Syndrome." NORD (National Organization for Rare Disorders), 4 Jan. 2021, rarediseases.org/rare-diseases/hutchinson-gilford-progeria.

"Hutchinson-Gilford progeria syndrome." MedlinePlus, 18 Aug. 2020, medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome/#:~:text=Hutchinson%2DGilford%20progeria

%20syndrome%20is%20considered%20an%20autosomal%20dominant%20condition,the%20disorder%20in%20their%20family. Accessed 19 Mar. 2021.

"Hutchinson-Gilford Progeria Syndrome." Rarediseases.org, NORD - National Organization for Rare Disorders, rarediseases.org/rare-diseases/hutchinson-gilford-progeria/. Accessed 19 Mar. 2021.

"LMNA gene." MedlinePlus, 18 Aug. 2020, medlineplus.gov/genetics/gene/lmna/#:~:text=The%20LMNA%20gene%20is%20found%20on%20chromosome%201. Accessed 19 Mar. 2021.

"My philosophy for a happy life | Sam Berns | TEDxMidAtlantic." YouTube, 13 Dec. 2013, www.youtube.com/watch?v=36m1o-tM05g. Accessed 4 Apr. 2021.

"Progeria." Cleveland Clinic, my.clevelandclinic.org/health/diseases/17850-progeria#:~:text=Progeria%20affects%20about%201%20in,progeria%20worldwide%20at%20any%20time. Accessed 19

Mar. 2021.

"Progeria." Mayo Clinic, Mayo Foundation for Medical Education and Research (MFMER), www.mayoclinic.org/diseases-conditions/progeria/symptoms-causes/syc-20356038?

scrlybrkr=27ac43a0#:~:text=Progeria%20. Accessed 19 Mar. 2021.

Sarma, Jahnavi. "Bizarre: Progeria can make a child of 8 look like an 80-year-old." The Health Site, 28 Mar. 2020, www.thehealthsite.com/diseases-conditions/bizarre-progeria-can-make-a-child-of-8-

look-like-an-80-year-old-735668/?scrlybrkr=638b7788. Accessed 4 Apr. 2021. Used for picture