Leber’s遗传性视神经病变分子致病机制研究.pdf

维普资讯 第8卷第 6期 眼 视 光 学 杂 志 Vo1．8N0．6 2OO6年 12月 OanieseJournalof0F l町 OphhtaLmology Dec．2006 · 专 稿 · Molecular pathogenetic mechanism ofLeber’s hereditary optic neuropathy JiaQu，一．Min．XinGuan一4 1．SchoolofOphthalmologyandpOtometry，WenzhouMedicalCoUege，WenzhouChina，325003；2·DivisionofHuman Genetics，CincinnatiChildren’sHospitalMedicalCenter，Cincinnati，Ohio45229，USA；3．ZhejinagProvnicialKey LaboratoryofMedicalGenetics，SchoolofLifeSciences，WenzhouMedicalCoUege，WenzhouChina，325003；4·Depart— me ntofPediatrics，Universityof CincinnatiCollegeofMedicnie，Cnicinnati，Ohio45229，USA [Abstract] Ld~er’shereditaryopticneuropathy(LHON)isthemestCOillnlDnhereditary0 catrophies． disease thebilateral lossof ccanalvL4on．1heimp0ItanceofU10N liesin itabilitytoc址lsesuchsevereandusuallyp既man印tvision lossinyoungadultswho areabouttostartorhave3／~enaybe日Llnea~loyraentorhigher lu凹 ∞，andtheramificationof di日罢岫 g蚰 inheriteddiseasetoothex meD出∞ of thepatient’sfamily．IhematernaltrtmsaaL~sionof visualdysfunctioninfamilieswithLHON~ggmotdthemutationsinmioteben— drialDNA (mtDNA)arethemol~darb∞ ofthisdisorder．Uptodate，35IMON-aesoei~dmtDNAmutationshavebeenidentifiedin manyped 嘲 woddwide．Ofthese，threeprimarymutations：ND1G3460A，ND4G11778A andND6T14484C，whichnivolvegenes皿一 cdemgthe曩lbI】面b0frespiratorycIl血lcomplexI，aceoun~forlnorethan50％ afU {0Npedi e ni differentethnic0rigi墙 ．In 工ticLIl丑， theG11778Amutationisthem0武 COllll／IonⅢ 0N—aa~ iatedmtDNArrmlation．Staki=giy，ram411neM relativeswithinfraniliesoramongftwai— liesam呵i卫Igth