异质性细胞器

异质性细胞器第1页，课件共10页，创作于2023年2月CharacteristicsofLysosomesLysosomeisaheterogenousorganelle（异质性细胞器）:Primarylysosome（初级溶酶体）Secondlysosomes（次级溶酶体）

heterophagic（异噬溶酶体）

autophagic（自噬溶酶体）Residualbody（残余小体）PrimaryLysSecondLys第2页，课件共10页，创作于2023年2月TheFunctionsofLysosomesLysosomesareinvolvedinthreemajorcellfunctions:①phagocytosis（吞噬）Asummaryofthephagocyticpathway第3页，课件共10页，创作于2023年2月②autophagy（自吞）Electronmicrographofamitochondrionandperoxisome(过氧化物酶体)enclosedinadoublemembranewrapperderivedfromtheER.Thisautophagicvacuolewouldhavefusedwithalysosomeanditscontentsdigested.第4页，课件共10页，创作于2023年2月③endocytosis（内吞作用）第5页，课件共10页，创作于2023年2月DisordersResultingfromDefectsinlysosomalFunctionI-celldisease:Manycellsinthesepatientscontainlysosomesthatarebloatedwithundergradedmaterials.Whenfibroblastsfromthesepatientswerestudiedinculture,itwasfoundthatlysosomalenzymesaresynthesizedatnormallevelsbutaresecretedintothemediumandnottargetedtolysosomes.

第6页，课件共10页，创作于2023年2月TheI-celldefectwassoontracedtothedeficiencyofanenzyme(N-acetyglucosaminephosphotransferase)requiredformannosephosphorylation.Thesecretedenzymeslackedthemannosephosphateresiduethatarepresentonthecorrespondingenzymesofcellsfromnormalindividuals.第7页，课件共10页，创作于2023年2月Pompedisease:afatalinheritedcondition

intheabsenceofα-glucosidase,undigestedglycogenaccumulatedinlysosomes,causingswellingoftheorganellesandirreversibledamagetothecellsandtissuesDiseasesofthistype,characterizedbythedeficiencyofasinglelysosomalenzymeandthecorrespondingaccumulationofundergradedsubstrate,arecalledlysosomalstoragediseases第8页，课件共10页，创作于2023年2月Otherlysosomalstoragediseases

DiseaseEnzymeDeficiencyPrincipleStoragesubstanceconsequencesGM1Gangliosid-osisGM1β-GalactosidaseGangliosideGM1Mentalretardation,liverenlargement,skeletalinvolvement,deathbyage2Tay-SachsdieaseHexosaminidaseAGangliosideGM2Mentalretardation,blindness,deathbyage3Fabry’sdiseaseα-GalactosidaseATrihexosylceramideSkinrash,kidneyfailure,paininlowerextremitiesSandhoff’sdiseaseHexosaminidaseAandBGangliosideGM2andglobosideSimilartoTay-SachsdieasebutmorerapidlyprogressingGaucher’sdiseaseGlucocerebrosidaseGlucocerebrosideLiverandspleenenlargement,erosionoflongbones,mentalretardationininfantileformonly第9页，课件共10页，创作于2023年2月Tay-Sachsdisease:thebest–studiedlysosomalstoragediseases

Itresultsfromadeficiencyoftheenzymeβ-N-hexosaminidaseA,anenzymethatdegradesthegangliosideGM2

GM2isamajorcomponentofthemembranesofbraincells,andintheabsenceofthehydrolyticenzyme,thegangliosideaccumulatesinthebloatedlysosomesofbraincells,causingdysfunctionInitssevereform,whichstrikesduringinfancy,