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Progeria
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Published on Nov 18, 2015
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PRESENTATION OUTLINE
1.
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 〄
2.
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
3.
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
4.
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
Photo by
Instant Vantage
5.
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
Hadley Scott
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