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Progeria

Published on Nov 18, 2015

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PRESENTATION OUTLINE

ABOUT

  • Pro- before
  • Geria- old age
  • 1 out of every 8 million people are born with progeria
  • Life span is 15-20 years
  • Age insanely fast
Photo by ˙Cаvin 〄

SYMPTOMS

  • Failure to thrive
  • Localized skin conditions; similar to scabs; they eventually reach organs
  • Limited growth
  • Very wide forehand; very underdeveloped jaw
  • Loss of eyesight, hair loss, cardiovascular problems, easily broken bodies; still maintain regular motor development
Photo by Vox Efx

CAUSE

  • Mutation on the LMNA gene; in which cytosine is replaced with thymine
  • Causes transcription to occur to quickly--therefor creating an abnormally short LMNA transcript
  • An abnormal protein is formed called progerian
  • Progerian does not support the nuclear envelope, causing dis functional cellular division
  • Makes one's life less than desirable
Photo by travisbell

DIAGNOSIS AND TREATMENT

  • Diagnosed by checking for LMNA gene mutations
  • There are no treatments
  • Although there is no cure, multiple cancer drugs are used to stop proliferation in dysfunctional proteins
  • People with Progeria die at a young age

PROGNOSIS

  • Death
  • Usually cause by heart attack or stroke
  • Patients exhibit above average intelligence
  • Rarely inherited because most patients die before having children
Photo by ajari