Nj\u00eb ekip nd\u00ebrkomb\u00ebtar studiuesish ka identifikuar shkakun e s\u00ebmundjes autoimune lupus n\u00eb mutacionet e ADN-s\u00eb t\u00eb nj\u00eb gjeni q\u00eb ndjen ARN virale \u2013 nj\u00eb zbulim q\u00eb do t\u00eb \u00e7oj\u00eb n\u00eb zhvillimin e trajtimeve t\u00eb reja. Aktualisht nuk ka kur\u00eb p\u00ebr s\u00ebmundjen kronike autoimune, e cila shkakton inflamacion n\u00eb organe dhe nyje dhe ndikon n\u00eb l\u00ebvizjen dhe l\u00ebkur\u00ebn \u2013 ndonj\u00ebher\u00eb me simptoma dob\u00ebsuese dhe komplikime q\u00eb mund t\u00eb jen\u00eb fatale.<\/p>\n\n\n\n
Lupusi prek disa mij\u00ebra njer\u00ebz, dhe trajtimet aktuale jan\u00eb kryesisht ila\u00e7e imunosupresive q\u00eb funksionojn\u00eb duke ulur aktivitetin e sistemit imunitar p\u00ebr t\u00eb leht\u00ebsuar simptomat.
Megjithat\u00eb, shkenc\u00ebtar\u00ebt koh\u00ebt e fundit raportuan se ata kryen sekuenc\u00ebn e plot\u00eb t\u00eb gjenomit n\u00eb ADN-n\u00eb e nj\u00eb f\u00ebmije spanjolle t\u00eb quajtur Gabriela, e cila u diagnostikua me lupus t\u00eb r\u00ebnd\u00eb kur ishte 7 vje\u00e7. Nj\u00eb rast kaq i r\u00ebnd\u00eb me fillimin e hersh\u00ebm t\u00eb simptomave \u00ebsht\u00eb i rrall\u00eb dhe sugjeron nj\u00eb shkak unik gjenetik.<\/p>\n\n\n\n
N\u00eb analiz\u00ebn e tyre t\u00eb publikuar m\u00eb 27 prill n\u00eb Nature, studiuesit raportojn\u00eb se kan\u00eb gjetur nj\u00eb mutacion t\u00eb vet\u00ebm t\u00eb r\u00ebnd\u00ebsish\u00ebm n\u00eb gjenin TLR7. N\u00ebp\u00ebrmjet referimeve nga SHBA dhe Spitali Renji i Shangait n\u00eb Kin\u00eb, ata identifikuan raste t\u00eb tjera t\u00eb lupusit t\u00eb r\u00ebnd\u00eb ku edhe ky gjen kishte mutacion.<\/p>\n\n\n\n
P\u00ebr t\u00eb konfirmuar se mutacioni shkakton lupus, ekipi p\u00ebrdori modifikimin e gjeneve CRISPR p\u00ebr ta futur at\u00eb te minjt\u00eb. K\u00ebta minj m\u00eb pas zhvilluan s\u00ebmundjen dhe shfaq\u00ebn simptoma t\u00eb ngjashme, duke ofruar d\u00ebshmi se shkaku ishte mutacioni TLR7. Si modeli i miut ashtu edhe mutacioni u em\u00ebruan ‘kika’ pas Gabriela, vajz\u00ebs s\u00eb re q\u00eb po trajtohet n\u00eb Qendr\u00ebn e Universitetit Komb\u00ebtar Australian p\u00ebr Imunologjin\u00eb e Personalizuar.<\/p>\n\n\n\n
Nj\u00eb num\u00ebr i vog\u00ebl njer\u00ebzish me lupus mund t\u00eb ken\u00eb variante n\u00eb vet\u00eb TLR7, por shum\u00eb pacient\u00eb kan\u00eb d\u00ebshmi t\u00eb mbiaktivitetit n\u00eb rrug\u00ebn TLR7. Duke konfirmuar nj\u00eb lidhje shkak\u00ebsore midis mutacionit t\u00eb gjeneve dhe s\u00ebmundjes, studiuesit mund t\u00eb fillojn\u00eb t\u00eb zhvillojn\u00eb trajtime m\u00eb efektive.<\/p>\n\n\n\n
Mutacioni q\u00eb studiuesit identifikuan b\u00ebn q\u00eb proteina TLR7 t\u00eb lidhet m\u00eb leht\u00eb me nj\u00eb p\u00ebrb\u00ebr\u00ebs t\u00eb acidit nukleik t\u00eb quajtur guanozin\u00eb dhe t\u00eb rris\u00eb aktivitetin e saj. Kjo rrit ndjeshm\u00ebrin\u00eb e qelizave imune, duke e b\u00ebr\u00eb m\u00eb shum\u00eb gjasa p\u00ebr t\u00eb keqidentifikuar indin e sh\u00ebndetsh\u00ebm si t\u00eb huaj ose t\u00eb d\u00ebmtuar dhe p\u00ebr t\u00eb nisur nj\u00eb sulm kund\u00ebr tij.<\/p>\n\n\n\n
Interesante, studime t\u00eb tjera kan\u00eb treguar se mutacionet q\u00eb e b\u00ebjn\u00eb TLR7 m\u00eb pak aktiv lidhen me disa raste t\u00eb infeksionit t\u00eb r\u00ebnd\u00eb COVID-19, duke theksuar ekuilibrin delikat t\u00eb nj\u00eb sistemi t\u00eb sh\u00ebndetsh\u00ebm imunitar.<\/p>\n\n\n\n
“Gjetja e trajtimeve efektive p\u00ebr lupusin \u00ebsht\u00eb nj\u00eb sfid\u00eb e madhe dhe agjent\u00ebt imunosupresiv\u00eb t\u00eb p\u00ebrdorur sot mund t\u00eb ken\u00eb efekte an\u00ebsore serioze dhe t’i l\u00ebn\u00eb pacient\u00ebt m\u00eb t\u00eb preksh\u00ebm ndaj infeksioneve,” tha autorja kryesore Carola Vinuesa, hetuese kryesore dhe drejtuese e Laboratorit t\u00eb ri t\u00eb Autoimunitetit n\u00eb Francis. Instituti Crick, ku do t\u00eb vazhdoj\u00eb k\u00ebrkimet. “Ka pasur vet\u00ebm nj\u00eb trajtim t\u00eb ri t\u00eb miratuar nga FDA n\u00eb 60 vitet e fundit apo m\u00eb shum\u00eb.”<\/p>\n\n\n\n
“Kjo \u00ebsht\u00eb hera e par\u00eb q\u00eb nj\u00eb mutacion TLR7 \u00ebsht\u00eb treguar se shkakton lupus, duke ofruar prova t\u00eb qarta t\u00eb m\u00ebnyr\u00ebs se si mund t\u00eb shfaqet kjo s\u00ebmundje.”<\/p>\n\n\n\n
10 her\u00eb m\u00eb shum\u00eb gjasa t\u00eb ndodh\u00eb tek grat\u00eb
Ky hulumtim mund t\u00eb ndihmoj\u00eb gjithashtu t\u00eb shpjegoj\u00eb pse lupusi \u00ebsht\u00eb rreth 10 her\u00eb m\u00eb i zakonsh\u00ebm tek grat\u00eb sesa tek burrat.
Meqen\u00ebse TLR7 ndodhet n\u00eb kromozomin X, grat\u00eb kan\u00eb dy kopje t\u00eb gjenit, nd\u00ebrsa burrat nj\u00eb. Zakonisht, nj\u00eb nga kromozomet X \u00ebsht\u00eb joaktiv te femrat, por n\u00eb k\u00ebt\u00eb pjes\u00eb t\u00eb kromozomit, heshtja e kopjes s\u00eb dyt\u00eb shpesh \u00ebsht\u00eb jo e plot\u00eb. Kjo do t\u00eb thot\u00eb se grat\u00eb me nj\u00eb mutacion n\u00eb k\u00ebt\u00eb gjen mund t\u00eb ken\u00eb dy kopje funksionale.<\/p>\n\n\n\n
“Identifikimi i TLR7 si shkaku i lupusit n\u00eb k\u00ebt\u00eb rast jasht\u00ebzakonisht t\u00eb r\u00ebnd\u00eb i dha fund nj\u00eb odiseje diagnostike dhe sjell shpres\u00eb p\u00ebr trajtime m\u00eb t\u00eb synuara p\u00ebr Gabriel\u00ebn dhe pacient\u00ebt e tjer\u00eb me lupus q\u00eb mund t\u00eb p\u00ebrfitojn\u00eb nga ky zbulim,” thot\u00eb Dr. Carmen de Lucas Collantes, bashk\u00eb- autor i studimit.<\/p>\n\n\n\n
Studiuesit tani po punojn\u00eb me kompanit\u00eb farmaceutike p\u00ebr t\u00eb eksploruar zhvillimin ose p\u00ebrshtatjen e terapive ekzistuese q\u00eb synojn\u00eb gjenin TLR7. Dhe ata shpresojn\u00eb se synimi i k\u00ebtij gjeni mund t\u00eb ndihmoj\u00eb gjithashtu pacient\u00ebt me kushte t\u00eb ngjashme si artriti reumatoid dhe dermatomioziti, t\u00eb cilat i p\u00ebrkasin t\u00eb nj\u00ebjt\u00ebs familje t\u00eb gjer\u00eb si lupus.<\/p>\n","protected":false},"excerpt":{"rendered":"
Nj\u00eb ekip nd\u00ebrkomb\u00ebtar studiuesish ka identifikuar shkakun e s\u00ebmundjes autoimune lupus n\u00eb mutacionet e ADN-s\u00eb t\u00eb nj\u00eb gjeni q\u00eb ndjen ARN virale \u2013 nj\u00eb zbulim q\u00eb do t\u00eb \u00e7oj\u00eb n\u00eb zhvillimin e trajtimeve t\u00eb reja. Aktualisht nuk ka kur\u00eb p\u00ebr s\u00ebmundjen kronike autoimune, e cila shkakton inflamacion n\u00eb organe dhe nyje dhe ndikon n\u00eb l\u00ebvizjen […]<\/p>\n","protected":false},"author":1,"featured_media":7008,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"tdm_status":"","tdm_grid_status":"","footnotes":""},"categories":[206,583],"tags":[505,902,630,900,901,903],"class_list":{"0":"post-7006","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-kuriozitete","8":"category-shendetsore","9":"tag-adn","10":"tag-arn","11":"tag-covid-19","12":"tag-lupus","13":"tag-tlr7","14":"tag-x"},"yoast_head":"\n