Ho sebelisa liphatsa tsa lefutso joalo ka moriana: ona ke mohopolo oa kalafo ea lefutso. Mokhoa oa phekolo o kenyelletsang ho fetola liphatsa tsa lefutso ho phekola lefu, phekolo ea liphatsa tsa lefutso e ntse e le qalong empa liphello tsa eona tsa pele lia tšepisa.

Tlhaloso ea phekolo ea lefutso

Phekolo ea liphatsa tsa lefutso e kenyelletsa lisele tse fetolang liphatsa tsa lefutso ho thibela kapa ho phekola maloetse. E itšetlehile ka ho fetisoa ha lefutso la phekolo kapa kopi ea liphatsa tsa lefutso tse sebetsang ka har'a lisele tse itseng, ka sepheo sa ho lokisa phoso ea lefutso.

Melao-motheo e ka sehloohong ea phekolo ea lefutso

Motho ka mong o entsoe ka lisele tse ka bang limilione tse likete tse 70. Sele e ’ngoe le e ’ngoe e na le lipara tse 000 tsa li-chromosome, tse entsoeng ka khoele e habeli e bōpehileng joaloka helix, e leng DNA (deoxyribonucleic acid). DNA e arotsoe ka likarolo tse likete tse 'maloa, liphatsa tsa lefutso, tseo re nang le likopi tse ka bang 23 tsa tsona. Liphatsa tsena tsa lefutso li etsa liphatsa tsa lefutso, e leng lefa le ikhethang la lefutso le fetisoang ke batsoali ka bobeli, le nang le boitsebiso bohle bo hlokahalang bakeng sa nts'etsopele le ts'ebetso ea 'mele. Ka sebele liphatsa tsa lefutso li bontša sele ka 'ngoe karolo ea eona nthong e phelang.

Tlhahisoleseding ena e fanoa ka lebaka la khoutu, motsoako o ikhethang oa metheo e 4 ea nitrogenous (adenine, thymine, cytosine le guanine) e etsang DNA. Ka khoutu, DNA e etsa RNA, lenģosa le nang le boitsebiso bohle bo hlokahalang (bo bitsoang li-exons) ho hlahisa liprotheine, tseo e 'ngoe le e 'ngoe ea tsona e tla phetha karolo e itseng' meleng. Ka hona, re hlahisa liprotheine tse mashome a likete tse hlokahalang bakeng sa ho sebetsa ha ’mele ea rōna.

Ka hona, phetoho ea tatellano ea liphatsa tsa lefutso e fetola tlhahiso ea protheine, e ke keng ea hlola e bapala karolo ea eona ka nepo. Ho itšetlehile ka liphatsa tsa lefutso tse amehang, sena se ka lebisa ho mafu a sa tšoaneng: kankere, myopathies, cystic fibrosis, joalo-joalo.

Ka hona molao-motheo oa phekolo ke ho fana ka, ka lebaka la lefutso la phekolo, khoutu e nepahetseng e le hore lisele li ka hlahisa protheine e haellang. Mokhoa ona oa liphatsa tsa lefutso pele o kopanyelletsa ho tseba ka nepo mekhoa ea lefu lena, phatsa ea lefutso le karolo ea protheine eo e e khethelang.

Patlisiso ea kalafo ea liphatsa tsa lefutso e shebana le mafu a mangata:

• kankere (65% ea lipatlisiso tsa morao-rao) 
• mafu a monogenic, ke hore, mafu a amang lefutso le le leng feela (hemophilia B, thalassemia) 
• mafu a tšoaetsanoang (HIV) 
• Lefu la pelo 
• mafu a neurodegenerative (lefu la Parkinson, lefu la Alzheimer, adrenoleukodystrophy, lefu la Sanfilippo)
• mafu a dermatological (junctional epidermolysis bullosa, dystrophic epidermolysis bullosa)
• mafu a mahlo (glaucoma) 
• joalo-joalo

Boholo ba liteko li ntse li le lipatlisisong tsa mohato oa I kapa oa II, empa tse ling li se li hlahisitse thekiso ea lithethefatsi. Tsena li kenyelletsa:

• Imlygic, ea pele ea oncolytic immunotherapy khahlanong le melanoma, e ileng ea amohela tumello ea eona ea Khoebo (Marketing Authorization) ka 2015. E sebelisa kokoana-hloko ea herpes simplex-1 e fetotsoeng ka liphatsa tsa lefutso ho tšoaetsa lisele tsa kankere.
• Strimvelis, phekolo ea pele e thehiloeng ho lisele tsa stem, e fumane tumello ea eona ea Khoebo ka 2016. E reretsoe bana ba tšoeroeng ke alymphocytosis, lefu le sa tloaelehang la lefutso la ho itšireletsa mafung ("bubble baby" syndrome)
• sethethefatsi Yescarta e bontšoa bakeng sa ho phekola mefuta e 'meli ea aggressive non-Hodgkin lymphoma: diffuse khōlō B-cell lymphoma (LDGCB) le refractory kapa relapsed ka sehloohong mediastinal kholo B-cell lymphoma (LMPGCB). E fumane tumello ea ho bapatsa ka 2018.

Ho na le mekhoa e fapaneng ea phekolo ea liphatsa tsa lefutso:

• ho nkela sebaka sa lefutso la bokuli, ka ho kenya kopi ya lefutso le sebetsang kapa “phatsa ya lefutso” seleseng e lebisitsweng. Sena se ka etsoa ka vivo: mofuta oa phekolo o kenngoa ka ho toba 'meleng oa mokuli. Kapa in vitro: lisele tsa stem li ntšoa mokokotlong oa mokokotlo, li fetotsoe ka laboratoring ebe li khutlisetsoa ho mokuli.
• ho lokisa liphatsa tsa lefutso ho na le ho lokisa ka kotloloho phetoho ea liphatsa tsa lefutso seleng. Li-enzyme, tse bitsoang li-nuclease, li tla khaola gene sebakeng sa phetoho ea eona, ebe karolo ea DNA e etsa hore ho khonehe ho lokisa lefutso le fetotsoeng. Leha ho le joalo, mokhoa ona e ntse e le oa liteko feela.
• ho fetola RNA, e le hore sele e hlahise protheine e sebetsang.
• tšebeliso ea livaerase tse fetotsoeng, tse bitsoang oncolytics, ho bolaea lisele tsa mofetše.

Ho kenya phatsa ea lefutso liseleng tsa mokuli, phekolo ea liphatsa tsa lefutso e sebelisa seo ho thoeng ke li-vector. Hangata ke likokoana-hloko tsa kokoana-hloko, tseo matla a tsona a chefo a hlakotsoeng. Hona joale bafuputsi ba ntse ba sebetsa ho nts'etsopele ea likokoana-hloko tse se nang kokoana-hloko.

E ne e le ka bo-1950, ka lebaka la tsebo e molemonyana ea liphatsa tsa lefutso tsa motho, moo khopolo ea phekolo ea liphatsa tsa lefutso e ileng ea hlaha. Leha ho le joalo, ho nkile lilemo tse mashome ho fumana liphetho tsa pele, tseo re li kolotang bafuputsi ba Mafora. Ka 1999, Alain Fischer le sehlopha sa hae sa Inserm ba ile ba khona ho alafa "lipulunyana" tse nang le bofokoli bo matla bo kopaneng ba 'mele bo amanang le X chromosome (DICS-X). Ka sebele sehlopha se atlehile ho kenya kopi e tloaelehileng ea lefutso le fetotsoeng ’meleng oa bana ba kulang, se sebelisa kokoana-hloko ea mofuta oa retrovirus.