Kugwiritsa ntchito majini ngati mankhwala: ili ndiye lingaliro lothandizira ma gene. Njira zochiritsira zosintha majini kuti zithandizire kuchiza matenda, njira zothandizira majini akadali akhanda koma zotsatira zake zoyambirira zikulonjeza.

Tanthauzo la chithandizo cha majini

Mankhwala a Gene amaphatikizapo kusintha majini kuti ateteze kapena kuchiritsa matenda. Zimatengera kusamutsa kwa jini yochiritsira kapena mtundu wina wama jini ogwira ntchito m'maselo ena, ndi cholinga chokonza cholakwika cha majini.

Mfundo zazikuluzikulu zamankhwala othandizira majini

Munthu aliyense amakhala ndi maselo pafupifupi 70 biliyoni. Selo lirilonse limakhala ndi ma chromosomes awiriawiri, opangidwa ndi ulusi wooneka ngati helix, DNA (deoxyribonucleic acid). DNA imagawidwa m'magulu masauzande ochepa, majini, omwe timakhala nawo pafupifupi 000. Mitundu imeneyi imapanga genome, cholowa chapadera chobadwa ndi makolo onse awiri, chomwe chimakhala ndi chidziwitso chonse chofunikira pakukula ndi kugwira ntchito kwa thupi. Chibadwa chimasonyezadi gawo lililonse gawo lake m'thupi.

Zambirizi zimaperekedwa chifukwa cha kachidindo, kuphatikiza kwapadera kwama 4 nitrogenous bases (adenine, thymine, cytosine ndi guanine) omwe amapanga DNA. Ndi code, DNA imapanga RNA, mthenga yemwe amakhala ndi zidziwitso zonse zofunika (zotchedwa exons) kuti apange mapuloteni, omwe amathandizira gawo lililonse mthupi. Chifukwa chake timapanga mapuloteni masauzande ambiri ofunikira kuti thupi lathu ligwire ntchito.

Kusintha kwa kayendedwe ka jini kumapangitsa kusintha kwa mapuloteni, omwe sangathenso kugwira bwino ntchito. Kutengera jini yomwe ikukhudzidwa, izi zimatha kubweretsa matenda osiyanasiyana: khansa, myopathies, cystic fibrosis, ndi zina zambiri.

Mfundo yothandizira ndiyoperekera, chifukwa cha jini yothandizira, nambala yolondola kuti maselo atulutse mapuloteni omwe akusowa. Njira imeneyi imakhudzanso kudziwa momwe matendawa amagwirira ntchito, jini lomwe limakhudzidwa komanso gawo la mapuloteni omwe amawonekera.

Kafukufuku wama Gene amayang'ana kwambiri matenda ambiri:

• Khansa (65% ya kafukufuku wapano) 
• Matenda a monogenic, matenda omwe amakhudza jini limodzi lokha (hemophilia B, thalassemia) 
• matenda opatsirana (HIV) 
• matenda a mtima 
• Matenda a neurodegenerative (Matenda a Parkinson, matenda a Alzheimer's, adrenoleukodystrophy, matenda a Sanfilippo)
• Matenda a dermatological (junctional epidermolysis bullosa, dystrophic epidermolysis bullosa)
• matenda amaso (glaucoma) 
• etc.

Mayeso ambiri akadali pakufufuza kwa gawo I kapena II, koma ena atha kale chifukwa chotsatsa mankhwala osokoneza bongo. Izi zikuphatikiza:

• Imlygic, woyamba oncolytic immunotherapy motsutsana ndi khansa ya khansa, yomwe idalandira Marketing Authorization (Marketing Authorization) mu 2015. Imagwiritsa ntchito kachilombo kosinthira kachilombo ka herpes simplex-1 kupatsira ma cell a khansa.
• Strimvelis, mankhwala oyamba kutengera maselo am'munsi, adalandira Chilolezo Chotsatsa mu 2016. Amapangidwira ana omwe akudwala matenda a alymphocytosis, matenda osowa kwambiri amthupi ("bubble baby" syndrome)
• mankhwala Yescarta amawonetsedwa kuti azitha mitundu iwiri ya non-Hodgkin lymphoma: kufalikira kwa B-cell lymphoma (LDGCB) ndikubwezeretsanso kapena kubwereranso m'mimba yayikulu yayikulu ya B-cell lymphoma (LMPGCB). Inalandira Chilolezo Chotsatsa mu 2018.

Njira zosiyanasiyana zimapezeka mu chithandizo cha majini:

• m'malo mwa jini yodwala, polowetsa mtundu wa jini yogwira ntchito kapena "geni yothandizira" mu khungu lomwe mukufuna. Izi zitha kuchitika mu vivo: jini yothandizira imalowetsedwa mthupi la wodwalayo. Kapena mu vitro: maselo am'madzi amatengedwa kuchokera kumsana, amasinthidwa mu labotale ndikubwezeretsanso wodwalayo.
• kusintha kwa majeremusi kumaphatikizapo kukonzanso mwachindunji kusintha kwa chibadwa mu selo. Mavitamini, otchedwa nucleases, amadula jini pamalo pomwe amasintha, kenako gawo la DNA limapangitsa kuti pakhale kusintha kwa jini komwe kwasinthidwa. Komabe, njirayi ndiyoyeserera chabe.
• kusintha RNA, kuti khungu litulutse mapuloteni ogwira ntchito.
• kugwiritsa ntchito ma virus osinthidwa, otchedwa oncolytics, kupha ma cell a khansa.

Kuti alowetse jini yothandizira m'maselo a wodwalayo, mankhwala amtundu amagwiritsa ntchito otchedwa vectors. Nthawi zambiri amakhala ma virus a ma virus, omwe akhoza kuthetsedwa ndi poizoni. Ofufuza pano akugwira ntchito yopanga ma vector omwe alibe ma virus.

Munali mzaka za m'ma 1950, chifukwa chodziwa bwino matupi athu, pomwe lingaliro lothandizira ma geni linabadwa. Komabe, zidatenga zaka makumi angapo kuti tipeze zotsatira zoyambirira, zomwe tili ndi ngongole kwa ofufuza aku France. Mu 1999, Alain Fischer ndi gulu lake ku Inserm adakwanitsa kuchiza "thovu lamwana" lomwe lidavutika ndi kuperewera kwa thupi kophatikizana ndi X chromosome (DICS-X). Gulu lakwanitsadi kuyika mtundu wabwinobwino wa jini losinthidwa mthupi la ana odwala, pogwiritsa ntchito kachilombo koyambitsa ma virus a retrovirus.