医学遗传学 07线粒体疾病的遗传eng vppt课件.ppt

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1、07线粒体疾病的遗传InheritanceofMitochondrailDiseasesThenormal46chromosomesinourbodyarecontainedinthecenterofthecell,whichiscalledthenucleus.Mitochondriaarestructuresinthecelllocatedoutsideofthenucleusinthecytoplasm,thatalsocontaingenesthatareseparatefromtheonesinthenucleus.Mitochondriaareextr

2、emelysmall(from.002-.008millimetersinlength)rice-shapedstructureswhosedetailscanonlybeseenwiththeelectronmicroscope.Mitochondriaareoftencalledthe“powerhouses”ofthecellbecausetheyarethesitewheresugarisbrokendowntoreleasetheenergyrequiredforcellularfunctions.Acellmayhavehundredsoreventh

3、ousandsofmitochondriadependingontheparticularcell’sneedforenergy.(Forexample,theaveragehumanlivercellcontainsmorethanathousandmitochondria.)Inadditiontocontainingthemanyproteinsneededtocontroltheenergyreleaseprocess,themitochondriaalsocontainasmallamountofDNAthatisusedtodirectthemanuf

4、actureofthirteenoftheproteinsneededforitsactivities.Unlikenucleargenes,whichareinheritedfrombothparents,mitochondrialgenesareinheritedonlyfromthemother.Ifthereisamutationinamitochondrialgene,itispassedfromamothertoallofherchildren;sonswillnotpassiton,butdaughterswillpassitontoallofthe

5、irchildren,andsoon.ThefirsthumandiseasethatwasassociatedwithamutationinmitochondrialDNAiscalledLeber'sHereditaryOpticNeuropathy,orLHON.IntenseSDHstainingofamusclefiberwithmitochondrialproliferationmtDNAPointmutationsCardiomyopathyLeber'sopticneuropathyLeigh'ssyndromeMELASMERRFN

6、ARP/MILSSingledeletionorduplicationAtaxia,LeukodystrophyDiabetes:Maternalinheritance Kearns-SayrePearson'sPEO:SporadicMultipledeletionsAgingMyositisInclusionbodyCOX-musclefibersMNGIEPEOWolframDepletionofmtDNAInfantilemyopathyFatal "Later-onset"AZTtreatmentSeveraltypesofmtD

7、NAdefectDeafnessDiabetesExternalophthalmoplegia(PEO) Sporadic Maternal Dominant RecessiveLeigh'sMyopathyRhabdomyolysisSensoryneuropathySystemicdisorders1.MitochondrialDNAMitochondriahavesomeoftheirownDNA,ribosomes,andcanmakemanyoftheirownproteins.TheDNAiscircularandliesinth

8、ematr