Genetic Transmission

Progeria is a “sporadic autosomal dominant mutation."

It affects chromosome 1. It is a substitution mutation in one allele of chromosome 1. The allele that is substituted is usually a cytosine and it is substituted by a thymine.

Mutations in the LMNA gene cause progeria syndrome. The LMNA gene provides instructions for making a protein called Lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential supporting component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause progeria syndrome result in the production of an abnormal version of the Lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of progeria syndrome.

Symptoms, Diagnosis, Frequency


  •  receding mandible
  • narrow nasal bridge and pointed nasal tip develop.
  • partial alopecia progressing to total alopecia
  • loss of subcutaneous fat,
  • progressive joint contractures,
  • bone changes, nail dystrophy, and abnormal tightness
  • delayed primary tooth eruption
  • Later findings include low-frequency conductive hearing loss,
  • dental crowding
  • partial lack of secondary tooth eruption.

Frequency: This disease is very rare only about 1 in 4 million people get this. There is more than 130 cases and was first described in 1886.

Diagnosis: Doctors usually look at  features that develop as a child like accelerated aging. signs and symptoms vary in age of severity, and the cases are very consistent. Children with progeria appear normal at birth then failures begin to appear in the first year.

Life Expectancy/ Survival Rate

The average life expectancy of a child born with Progeria is 13 or 14 years, but in some cases patients can die much earlier or much later, possibly being able to live up to heir early 20's.

All cases result in death, predominantly due to a heart attack or stroke, due to the disease speeding these disorders.


There is currently no cure for Progeria but scientist are working hard to make advancements, using new information uncovered everyday. However for the meantime children receive a variety of treatments including monitoring and therapy in order to help control and slow the effects of the disease.

Monitoring: Doctors will monitor the heart and other aspects of the cardiovascular system to help manage cardiovascular diseases.

Medication: Low doses of Aspirin may help reduce the risk from a heart attack or stroke. However in some cases other medications can be used to lower cholesterol, prevent blood clots, or even stimulate growth.

Therapy: Physical therapy can be useful in controlling joint pain and stiffness.

Surgery: Patients may receive coronary bypass surgery conductive to slowing the progression of heart diseases.

Work Cited

Interesting Facts :)

-  As of January 2015, there are 126 children known to be living with progeria

- Progeria does not affect the mind, only the body

- Teenagers with progeria often looks 80-90 years old

- Progeria had been around since 1886

- Kids don't start showing signs of Progeria until around the age of 2

- Kids with Progeria lose their eyebrows and eyelashes due to the disease

"Progeria." Definition. N.p., n.d. Web. 07 Jan. 2015.

"Gene Discovery Speeds Progeria Research." JAMA Network. N.p., n.d. Web. 09 Jan. 2015.

"Progeria: Causes, Symptoms, and Treatments." WebMD. WebMD, n.d. Web. 08 Jan. 2015.

"Hutchinson-Gilford Progeria Syndrome."Genetics Home Reference. Web. 21 Jan. 2015. <>.

"About Progeria." Progeria Research Foundation. N.p., n.d. Web. 08 Jan. 2015.

"Progeria: Causes, Symptoms, and Treatments." WebMD. WebMD, n.d. Web. 09 Jan. 2015.

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