• protein
  • A mutation in the Nav1.5 protein blocks interaction with ANK3 binding and therefore disrupts surface expression of Nav1.5 in cardiomyocytes resulting in Brugada syndrome, a type of cardiac arrhythmia. (wikipedia.org)
  • genome
  • Isolating the progeria gene is a major achievement for the medical research community," said Francis Collins, director National Human Genome Research Institute and senior author on the report. (cnn.com)
  • gene
  • Later, this gene was identified by researchers from Duke University as the gene coding for the enzyme superoxide dismutase, which is involved in Down syndrome and some cases of Amyotrophic Lateral Sclerosis (ALS, also known as Lou Gehrig's disease). (wikipedia.org)
  • The Progeria Research Foundation and the National Institutes of Health announced Wednesday that scientist were able to isolate the gene within just a year of beginning research. (cnn.com)
  • According to researchers, progeria is caused by a single-letter misspelling in a gene on chromosome 1. (cnn.com)
  • disease
  • It is an extremely rare disease which is primarily a syndrome in children. (hubpages.com)
  • Progeria is a disease which the body's natural aging process is dramatically accelerated. (wordpress.com)
  • They included isolation of the genes for Huntington's disease, neurofibromatosis, multiple endocrine neoplasia type 1, inv(16) AML and Hutchinson-Gilford progeria syndrome. (wikipedia.org)
  • John Tacket, who has progeria syndrome, says he is just a regular guy who is "very content" even though he knows his disease is fatal. (cnn.com)
  • The discovery not only gives hope to children and families affected by progeria, but also may shed light on the phenomenon of aging and cardiovascular disease. (cnn.com)
  • Characteristics
  • Limited growth, full-body alopecia (hair loss), and a distinctive appearance (a small face with a shallow recessed jaw, and a pinched nose) are all characteristics of progeria. (wikipedia.org)
  • cells
  • This ultimately leads to an embryo within the womb to develop progeria genes and cells, and the condition sets in the moment the child is born, until he/she passes away during the teenage years. (healthfitnessresource.com)
  • extremely rare
  • There is also the extremely rare and poorly understood "Syndrome X," whereby a person remains physically and mentally an infant or child throughout one's life. (wikipedia.org)
  • normal
  • Infants who were born with this syndrome appear to be normal at birth. (hubpages.com)
  • He also showed that Progeria is a true representation of aging with respect to cellular signaling pathways, and truly recapitulates the normal aging process at the cellular level. (wikipedia.org)
  • research
  • Before the late 20th century, research on progeria yielded very little information about the syndrome. (wikipedia.org)
  • Foose serves as the vice chairman of the Progeria Research Foundation's California Chapter. (wikipedia.org)
  • For those with progeria, research has shown that the drug reduces the prevalence of stroke and transient ischemic attack, and the prevalence and frequency of headaches while taking the medication. (wikipedia.org)
  • Dr. Leslie Gordon founded the Progeria Research Foundation with her husband, Dr. Scott Berns. (cnn.com)