PROGERIA

Progeria
The "pro" means: "before" or "premature"
The "geria" or "gēras" means: "old age"
The word is primarily Greek.

Hutchinson-Gilford Progeria Syndrome (HGPS)

Dr. Jonathon Hutchinson ; 1886

Dr. Hastings Gilford ;
1896

PHENOTYPES

• Pinched/beaked nose
• Small face and jaw
• Prominent eyes
• Baldness
• Aged-looking skin

LMNA GENE

Regular protein created - Lamin A (holds the nucleus together)
Once mutated it is referred to as Progerin (becomes unstable and leads to disorder)

We all make a little bit of Progerin,






Just not as much as one with Progeria

The wildtype protein's function: provide stability and strength to the cell and hold the nucleus together.



The altered protein continues to work and damages the nucleus over time by causing a build up of this altered protein it makes it more likely for cells to die prematurely. I classify this under hyperactive.

LOCATION OF THE GENE: LMNA

Base pair substitution: Cytosine to Thymine

Lead to the altered version of the protein so it's a missense mutation.

How is it inherited?

It's not. Don't worry I'll explain later

Mutant Allelle: Dominant

Not x-linked but it's autosomal.

It's not in anyway gender specific

Before conception, something went wrong :(

In either egg or sperm there was a change in the LMNA gene (a mutation)

PROGERIA PEDIGREE

STATS

They're just young kids who want exactly what we wanted but they won't get the time we were blessed with to live it.

BUT...

• Some of the most energetic kids
• Have lots of ambitions
• They don't lose hope
• Live as normally as possible

PICTURES

PUNNETT SQUARE FOR PROGERIA

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