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Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome. A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the nucleus of the cell together. When this gene gets mutated, an abnormal form of lamin A protein called progerin is produced. Progeroid syndromes are a group of diseases that causes individuals to age faster than usual, leading to them appearing older than they actually are. Patients born with progeria typically live to an age of mid-teens to early twenties.
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Lonafarnib, sold under the brand name Zokinvy, is a medication used to reduce the risk of death due to Hutchinson-Gilford progeria syndrome and for the treatment of certain processing-deficient progeroid laminopathies in people one year of age and older.
Progerin is a truncated version of the lamin A protein involved in the pathology of Hutchinson–Gilford progeria syndrome. Progerin is most often generated by a sporadic single point nucleotide polymorphism c.1824 C>T in the gene that codes for matured Lamin A. This mutation activates a cryptic splice site that induces a mutation in premature Lamin A with the deletion of a 50 amino acids group near the C-terminus. The endopeptidase ZMPSTE24 cannot cleave between the missing RSY - LLG amino acid sequence during the maturation of Lamin A, due to the deletion of the 50 amino acids which included that sequence. This leaves the intact premature Lamin A bonded to the methylated carboxyl farnesyl group creating the defective protein Progerin, rather than the desired protein matured Lamin A. Approximately 90% of all Hutchinson–Gilford progeria syndrome cases are heterozygous for this deleterious single nucleotide polymorphism within exon 11 of the LMNA gene causing the post-translational modifications to produce Progerin.
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Sampson GordonBerns was an American activist with progeria, an extremely rare and fatal disease that causes the body to age rapidly. Berns helped raise awareness about the disease and he was the subject of the HBO documentary Life According to Sam, which was first screened in January 2013.
Life According to Sam is an HBO original documentary film directed by Sean Fine and Andrea Nix Fine. Premiering in January 2013 at the Sundance Film Festival, the documentary discloses the impact that progeria had on the lives of Sam Berns and his parents, Dr. Leslie Gordon and Dr. Scott Berns. It was broadcast on HBO in October 2013, and since then it has won a 2013 Peabody Award and an Emmy Award for Exceptional Merit in Documentary Filmmaking. It was also one of the 15 titles considered for nomination in the Documentary Feature category for the 86th Oscars.
References
- 1 2 Moore, Keith. Old at Age 3: The Story of Zachary Moore Old At Age 3, 2007 ISBN 061516062X, pp. 11–13
- ↑ Klatz, Ronald. The New Anti-aging Revolution: Stopping the Clock for a Younger, Sexier, Happier You! ReadHowYouWant.com, 2009. ISBN 1458716228, p. 274
- ↑ "FDA Approves Drug for Progeria, a Rare Disease Causing Rapid Aging in Children". AJMC. Retrieved 2021-01-17.
- ↑ Gordon, Leslie B.; Shappell, Heather; Massaro, Joe; D’Agostino, Ralph B.; Brazier, Joan; Campbell, Susan E.; Kleinman, Monica E.; Kieran, Mark W. (2018-04-24). "Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome". JAMA. 319 (16): 1687. doi: 10.1001/jama.2018.3264 . ISSN 0098-7484.
