HGPS

Progeria

Extremely rare, fatal genetic condition that affects children and gives them an appearance of accelerated aging

Dr. Jonathan hutchinson

First to describe a patient with symptoms resembling premature aging

Rogeros

The word progeria comes from the greek word what?

Prematurely old

Rogeros means what?

Gene mutation arising around the time of conception and with severe hardeing of the arteries

Autosomal dominant

Hutchinson-gilford progeria is caused by what?

Lamin A (LMNA)

Progeria syndrome is caused by a mutation in a gene called what?

LMNA

Role in the production of the lamin A

Lamin A protein

Structural protein important for the stabilization of the nuclear membrane

Caucasian

Progeria affects all races with about 97% being what?

18-24 months of age

Children with progeria start showing symptoms around what age?

Dr. Jonathan hutchinson (1886) and dr. Hastings Gilford (1897)

Scientists that described progeria syndrome

1903

Researchers identified that HGPS is caused by a specific mutation in the LMNA gene

1904

Gilford gives the condition its name from the greek words pro (before) and geras (old age)

LMNA gene

Normally makes a protein called lamin A

Lamin A

Forms nuclear lamina

Nuclear lamina

Supportive mesh that sits under nuclear envelope produced by Lamin A

Point mutation

What kind of mutation is progeria?

Progerin

LMNA mutation causes the abnormal gene to produce what?

Farnesyl group

In order to cause progeria, what molecule must be attached to progerin?

Repair protein

Progerin holds on the ability to what?

14.5 years

Average age of death

Severe atherosclerosis

Death mostly occurs because of what?

De novo autosomal dominant pathogenic variant

HGPS is typically caused by what?

No

Is HGPS inherited?

Sporadic

What kind of mutation is HGPS? Is it sporadic or inherited?

2%-3%

Parents with a progeria child have a chance of birthing another progeria child?

Mosaicism

Why are parents of progeria children have an increased chance of having another progeria child?

Lonafarnib

Farnesyl transferase inhibitor

Farnesyl transferase inhibitor

Reduces the farnesylation of numerous cellular proteins, including progerin

November 2020

When did the FDA approve zokinvy ?