线粒体病患者肌肉组织中线粒体氧化磷酸化酶复合体活性变化与意义

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1、———————’’。’。。。。。。。。。。。。。。’。。。。。。。。。。。。。。。。。。’。。。。。。。。。。。。。。。。。。。。。。。。。。。。。。。。。。。I●__________________■。_____●_I__一生奎盔兰堡上兰些丝墨OⅪ’HOSactivities，especiallytechniquesthatcanbesuccessfullybothintwo-stepeentdfugationandlow-speedcentrifugationfrozenmusculartissuemit

2、ochondrialpreparations．Mitochondrialpreparmionsofnormalfkshandfrozenmusculartissuewereusedascomparison．Second，OXPHOSactivitiesweremeasuredindifferentsubtypesofmitoehondrialcytopathies，andanalyzetherelationshipofgenotypes，phenotypesandOXPHOSactivity．L嬲t．mito

3、chondrialcytopathiesweresubdividedaccordingtheirOXPHOSactivitiesdeficiencytypes．Method：All36casesarefrominstitueteofneuromusculardisordersofQiluhospital，ShandongUniversity．Basedonclinicalmanifestation,radiologycharacteristicsandmuscularpathology,MELAS(12pat

4、ients)，CPEO(5patients)，KSS(3patients)，mitochondrialmyopathy(3patients)，Leighsyndrome(2patients)andundefinedtypemitocbondrialcytopathy(2patients)wei'eidentified．Another9patientsaffectedbynon-mitochondrialcytopathymusculardisordersand10normalsurgicalexamplesw

5、ereincludedinourstudyascomparisorLDifferentexactingrnitochondrialpreparationmethodsWgreusedaccordingthequantityofmuscle．SeetrophotometrictechniqueswerepresentstostudymitochondrialOXPHOScomplexesactivities，andcomparedwithselfcitratesynthaseactivities．Result：

6、MitochondrialOXPHOScomplexesactivitieshavestatisticsignificancebetweenfreshandfrozenmuscletissuesofnormalsurgicalexamples．Differentexactingmethodsalsoaffecttheactivities．ComplexIandIIIhavestatisticdifferenceinMELASpatients．ComplexI。IIIandIVhavestatisticdiff

7、erenceinCPEOpatients．ComplexVactivitydecreaseinaLeighsyndromepatient,andhavegoodrelationwithanewnonsensepointmutationinATPase6gene．ComplexIactivitydecreaseisthemostsignificantinall27patients，especiallyinMELASpatients．Conclusion：Althoughthesectrophotometricm

8、ethodsofOXPHOSmeasurementareperfectintheory,alotofmiscellaneousanduneasy-conservedreagentsareneeded，anddifferentlabconditionsalsoaffecttheresult．Socontrollingthecomplicationofreagentsandlabconditionspl