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Progeria

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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  1. Progeria A disease of premature aging Bailey Bolten

  2. 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

  3. 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

  4. 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)

  5. 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

  6. 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

  7. Atherosclerosis Cardiovascular incidents are the cause of death for nearly every person with progeria Progerin accumulation compromised cells vascular degeneration

  8. Stem Cells and Telomeres… • Progerin • Heart Disease • Shortened Telomeres • Defective Mesenchymal Stem Cells • Vascular degeneration

  9. FTI Therapy Farnesyltransferase Inhibitor LmnaHG/+ mice Reduced number of misshapen nuclei Changes in physical condition BUT, consideration of LmnanHG/+ mice

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