Is Sam still alive progeria?

Foxborough, Massachusetts, U.S. Sampson Gordon Berns (October 23, 1996 – January 10, 2014) was an American activist who had progeria and helped raise awareness about the disease. He was the subject of the HBO documentary Life According to Sam, which was first screened in January 2013.

What type of mutation causes progeria?

A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the center (nucleus) of a cell together. When this gene has a defect (mutation), an abnormal form of the lamin A protein called progerin is produced and makes cells unstable.

Who discovered the gene that causes progeria Sam?

Death occurs on average at age 13, usually from heart attack or stroke. But there is new hope for those with Progeria. Sam’s mother, Leslie Gordon, co-authored the 2003 paper on the discovery of the gene which causes progeria. Progeria is caused by a tiny mutation in that single gene, known as lamin A (LMNA).

What is the name of the mutated gene product in progeria?

Progeria is caused by a mutation (change) in the lamin A (LMNA) gene. This gene makes a protein that holds the nucleus of a cell together. Because of the change in the gene, the protein becomes defective. This makes the nucleus unstable, which is believed to cause the premature aging process.

Did Benjamin Button have progeria?

What Is Progeria? Progeria is also known as Hutchinson-Gilford progeria syndrome (HGPS) or the “Benjamin Button” disease (named after the short story and movie ‘The Curious Case of Benjamin Button’). It’s a rare genetic condition that results in a child’s body aging rapidly. A mutation in the LMNA gene causes progeria.

What is the basic biochemical cause of progeria?

Progeria is a disease of premature aging frequently due to a mutation in the lamin A gene.

What does Sam Berns suffer from?

If you’re looking for some inspiration that will motivate you to make those changes, you might find it in a deeply moving 2013 TEDx talk (which has been viewed nearly 40 million times) from Sam Berns, who passed away at 17 in 2014 from complications of progeria — a genetic disorder resulting in rapid premature aging.