Progeria
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Progeria. A disease of premature aging Bailey Bolten. Two Types of Progeria. Werner’s Syndrome (WS). Hutchinson-Gilford Progeria Syndrome (HGPS). Progeria of the adult Mutation in the gene WRN (codes for RecQ family of helicases) Severely reduced replication

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Progeria

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Progeria

Progeria

A disease of premature aging

Bailey Bolten


Two types of progeria

Two Types of Progeria

Werner’s Syndrome (WS)

Hutchinson-Gilford Progeria Syndrome (HGPS)

Progeria of the adult

Mutation in the gene WRN (codes for RecQ family of helicases)

Severely reduced replication

Early graying or hair loss, type 2 diabetes, cataracts, atherosclerosis

Childhood progeria


Hutchinson gilford progeria syndrome

Hutchinson-Gilford Progeria Syndrome

Occurs in 1 out of every 4-8 million newborns

68 children worldwide currently live with HGPS

Genetic, not hereditary (a de novo point mutation)

Affects both genders equally; found in all races

First documented in early 20th century

The gene mutation discovered in 2003


Phenotypes of hgps

Phenotypes of HGPS

Appearance is normal at birth

Prominent scalp veins

Loss of subcutaneous fat

Alopecia

Greatly reduced joint rotation…arthritis

Osteoporosis

Severely retarded physical growth (no mental delays)

ATHEROSCLEROSIS (short life span)


Lmna mutation

LMNA Mutation

Mutation in the LMNA gene (codes for lamin A)

A base substitution (from C to T) in exon 11 deletion of 50 amino acids near carboxyl terminus of prelamin A

The mutated prelamin A (progerin) cannot be fully processed into mature lamin A

Progerin lacks cleavage site and remains farnesylated


Progerin

Structural role of lamin A

Progerin closely associates with the nuclear envelope

Misshapen nuclei and thickened lamina

Membrane trafficking is greatly inhibited

Premature senescence

Progerin


Atherosclerosis

Atherosclerosis

Cardiovascular incidents are the cause of death for nearly every person with progeria

Progerin accumulation compromised cells vascular degeneration


Stem cells and telomeres

Stem Cells and Telomeres…

  • Progerin

  • Heart Disease

  • Shortened Telomeres

  • Defective Mesenchymal

    Stem Cells

  • Vascular degeneration


Fti therapy

FTI Therapy

Farnesyltransferase Inhibitor

LmnaHG/+ mice

Reduced number of misshapen nuclei

Changes in physical condition

BUT, consideration of LmnanHG/+ mice


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