Progeria.2
- 2. • Progeriaor(Hutchinson–Gilfordprogeriasyndromeis anextremelyraregenetic disorder. • The wordprogeria comes fromtheGreek words (pro meaning "before"or "premature“, andgeria meaning "oldage”). • Progeriawasfirstdescribed in 1886by (JonathanHutchinson), itwasalso described independentlyin 1897by HastingsGilford.Theconditionwaslaternamed (Hutchinson–Gilfordprogeria syndrome). • Thedisorderhasavery low incidencerate,occurring in an estimated1 per8 million live births. • Children withProgeriagenerally appearnormalatbirth,by 12monthssigns and symptoms, such asslowgrowthandhairlossbegin toappear. • Affectsbothsexesequallythroughoutthe world. • Thereare100knowncasesin theworld.Approximately140 caseshavebeen reportedin medical history.• the averagelife expectancyforachild with progeriais about13years, butsomewiththe diseasedie youngerandsomelive 20 yearsor longer.
- 3. • Researchers have discovered asinglegenemutationresponsible forProgeria. • Progeria(HGPS)is causedby amutationinthe gene calledLMNA. • The twomajorproteins producedfrom this gene,lamin A andlamin Caremade inmost ofthe body'scells. • Lamins AandCare structuralproteins called intermediate filament proteins.Intermediate filaments providestabilityand strengthto cells. • This mutationchanges asingleDNA buildingblock (nucleotide) inthe gene. Specifically the mutation replaces the nucleotidecytosinewith the nucleotidethymineatposition 1824(writtenas C1824T). • The C1824T mutationleads toanabnormalversion ofthe lamin A proteincalled Progerin,which is missing50 amino acids.
- 4. • Progerin is the protein which produced by a new version of lamin A , and progerin makes the nucleus unstable , that cellular instability leads to the process of premature aging and disease in progeria. • Thereisafarnesylfunctionalgroupattachedto thecarboxyl- terminusofits structurewhichallowsprelamin A toattach temporarilytothe nuclearrim andwhenit attached,thefarnesyl groupisremoved. Failure toremovethisfarnesylgroup permanentlyaffixestheproteintothe nuclearrim. Withoutits farnesylgroup,prelamin A is referredto aslamin A.LaminA, alongwith laminandlamin C, makesup thenuclearlamina, which providesstructuralsupporttothe nucleus.
- 6. • thereis noknowncure forProgeria. • the child usuallyjust takesmedication togetridof orslowdownthe symptoms ofprogeria. • Mosttreatmentfocuses onreducingcomplication such as (cardiovascular disease). • The use ofMorpholinoshas alsobeen attempted inordertoreduce progerinproduction. • Anti-cancerdrug,rapamycin,causedremovalof progerinfrom thenuclearmembrane through autophagy. • Growthhormonetreatment hasbeen attempted. Treatment