an amazing brief presentation about one of genetic disorder which is progeria , that will be useful for students to understan this syndrome

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