Imizimba yethu iyimishini emangalisayo. Inezinhlelo eziningi zokuzivikela ezisivikela ezifweni ezivela ngaphandle futhi zilawula nezinkinga ezivela emzimbeni. Ngokufanayo, kukhona "abaqaphi" abakhethekile ezizakhini zethu zofuzo ezisiza ekumiseni ukukhula kwamangqamuzana omdlavuza. Namuhla sizokhuluma ngabo.
Ziyini lezi zakhi zofuzo ezivimbela umdlavuza?
Kalula nje, lezi yizakhi zofuzo ezivimba amangqamuzana ekukhuleni okungalawuleki, okungaholela kumdlavuza. Lezi zakhi zofuzo zikhiqiza amaprotheni akhethekile. Lawa maprotheni yiwo avimba inqubo yokwakha izimila. Ngamanye amazwi, lezi zakhi zofuzo zisebenza "njengohlelo lwamabhuleki" olulawula isivinini lapho amangqamuzana emzimbeni wethu ehlukana khona.
Cabanga ukuthi ushayela imoto. Udinga amabhuleki ukulawula isivinini semoto, akunjalo? Yilokho kanye okwenzekayo. Amaseli emzimbeni wethu adinga ukwahlukana ngangokunokwenzeka, bese eyeka ukwahlukana uma kudingeka. Umsebenzi wokusebenzisa lawa "mabhuleki" wenziwa ngamaprotheni enziwe yizakhi zofuzo ezivimbela isimila.
Kodwa, kwenzekani uma ngesizathu esithile la ma-gene eshintsha, okungukuthi, ukuguquka kwezakhi zofuzo ? Kufana namabhuleki emotweni ephuka. Lapho amabhuleki eyeka ukusebenza, ukukhiqizwa kwamaprotheni atshela amaseli ukuthi ayeke ukwahlukana kuyayeka. Ngemuva kwalokho amaseli aqala ukwahlukana ngokungalawuleki. Iqoqo lamaseli eliqoqana ngale ndlela yilokho esikubiza ngokuthi "isimila."
Yingakho kubaluleke kakhulu ukuthi odokotela baqaphele la ma-gene acindezela umdlavuza. Ukuhlolwa kwezinguquko kulezi zakhi zofuzo kungasiza ekutholeni imbangela yomdlavuza womuntu futhi kuhlole nengozi yomdlavuza.
Yiziphi izinguquko ezinkulu ezibonakala kulezi zakhi zofuzo?
Abacwaningi manje sebethole izakhi zofuzo eziningi ezivimbela umdlavuza ezisiza ekuvimbeleni umdlavuza. Ukuguquka kwalezi zakhi zofuzo kungasiza ekuthuthukisweni komdlavuza. Ake sibheke izibonelo ezimbalwa. Ngibeke lolu lwazi etafuleni elingezansi ukuze kube lula ukuluqonda.
| Igama Lejini | Umdlavuza ohlobene kanye nokubaluleka kwawo |
|---|---|
| I-TP53 | Lokhu kubaluleke kakhulu kangangokuthi ososayensi bakubiza ngokuthi “umqaphi we-genome.” Ngaphezu kwama-50% omdlavuza emhlabeni wonke ahlotshaniswa nokuguquka kwezakhi zofuzo ze-TP53. |
| RB1 | Lesi yi-gene yokuqala yokucindezela isimila etholakale ngabacwaningi. Ukuguquka kwezakhi zofuzo kulesi sakhi sofuzo kubangela i-retinoblastoma , umdlavuza wamehlo. Iphinde ihlotshaniswe nomdlavuza webele, wamaphaphu kanye nowesinye. |
| I-CDKN2A | Ukwehluka kwalesi sakhi sofuzo kungabonakala kumdlavuza wesikhumba ozuzwe njengefa (i-melanoma) kanye nomdlavuza we-pancreatic . |
| I-BRCA1 ne-BRCA2 | Cishe uke wezwa ngala magama amabili. Ukwehluka kwala ma-gene kwandisa kakhulu ingozi yomdlavuza webele nowesibeletho ozuzwe njengefa. Kuphinde kwandise ingozi yomdlavuza webele we-pancreatic, we-prostate, nowabesilisa. |
| I-APC | Abantu abazalwa bene- Familial Adenomatous Polyposis (FAP) , isimo esizuzwe njengefa, banekhophi eguquliwe yesakhi sofuzo se-APC. Lesi simo sivame ukuholela kumdlavuza wamathumbu amakhulu. |
| I-PTEN | Njengesakhi sofuzo se-BRCA, izinguquko esakhi sofuzo se-PTEN zihlotshaniswa nesimo esibizwa ngokuthi i-PTEN hamartoma tumor syndrome (PHTS) , esanda ingozi yezinhlobo eziningana zomdlavuza, okuhlanganisa umdlavuza webele, we-thyroid, nowesibeletho. |
Iyini ngempela indima yalezi zakhi zofuzo?
Umsebenzi oyinhloko walezi zakhi zofuzo ukuvimba amangqamuzana ukuthi angahlangani futhi akhe amathumba. Ukuze siqonde ukuthi lokho kwenzeka kanjani, sidinga ukuqonda okuncane ngobudlelwano phakathi kwe-DNA, izakhi zofuzo, namaseli.
Cabanga ukuthi yonke iseli emzimbeni wethu ifana nefektri encane. Le fektri inazo zonke iziqondiso ezidingayo kulabhulali enkulu. Le labhulali yi -DNA .Okusho ukuthi. Izincwadi ezikulowo mtapo wolwazi zibizwa ngokuthi izakhi zofuzo . Incwadi ngayinye (izakhi zofuzo) iqukethe "iresiphi" yokwenza iphrotheni ethile edingwa ngumzimba. Ngakho-ke, izincwadi ezibizwa ngokuthi izakhi zofuzo ezicindezela izicubu ziqukethe izindlela zokwenza amaprotheni avimba ukukhula kwamangqamuzana.
Lezi zakhi zofuzo zenza imisebenzi eminingana eyinhloko:
- Kuvimbela amangqamuzana ukuthi ahlukane ngokushesha nangokungalawuleki, okuholela ekwakhekeni kwezimila.
- Kubangela ukuba amaseli amadala, onakele afe ngesikhathi esithile. Lena inqubo evamile emzimbeni.
- Umonakalo ku-DNA uyalungiswa, okuvimbela izakhi zofuzo ezinephutha ukuthi zingakopishwa zibe amaseli amasha.
- Kuyasiza ekuvimbeleni ukusabalala komdlavuza kwezinye izingxenye zomzimba.
Ngakho-ke, uma kukhona ushintsho kulesi sakhi sofuzo esisodwa, iphrotheni eliyikhiqizayo ingenziwa ngendlela engafanele. Noma iphrotheni ingayeka ukwenziwa ngokuphelele. Khona-ke amaseli awawutholi umyalezo othi "yeka ukwahlukana manje." Umphumela uba ukuthi amaseli ayaqhubeka nokwahlukana futhi akhe izimila zomdlavuza.
Kungani lezi zakhi zofuzo ezicindezela umdlavuza zishintshashintsha?
Kunezizathu ezimbili eziyinhloko zokuthi kungani izakhi zofuzo zomuntu ezicindezela umdlavuza zingashintsha.
1. Ifa kusukela esizukulwaneni kuya kwesinye
Abanye abantu bazuza lezi zakhi zofuzo eziguquliwe kubazali babo. Isibonelo, i-Li-Fraumeni syndrome yisimo esibangelwa ukuzuza ikhophi eguquliwe yezakhi zofuzo ze-TP53. Ngokuvamile, sinamakhophi amabili esakhi sofuzo ngasinye (esinye esivela kumama wethu, esinye esivela kubaba wethu). Ngale ndlela, ukuzuza ikhophi eyodwa eguquliwe kwandisa ingozi yomdlavuza.
Ngokuvamile, ukuze umdlavuza ukhule, womabili amakhophi esakhi sofuzo kumele angasebenzi. Lokhu kwaziwa nangokuthi "i-hypothesis yama-hit amabili." Lokhu kusho ukuthi uma ikhophi eyodwa izuzwe njengefa futhi enye ikhophi enempilo ishintsha ngesizathu esithile empilweni, umdlavuza ungakhula.
2. Ukwenzeka ngesikhathi sokuphila
Abantu abaningi baba nomdlavuza ngenxa yezinguquko kulezi zakhi zofuzo ezenzeka ngokuguga. Lokhu kungabangelwa yi:
- Izinguquko zemvelo ezenzeka emzimbeni lapho ukhula: Njengoba nje izingxenye zomshini omdala ziguga.
- Izici zemvelo: ukuchayeka entuthwini kagwayi, amakhemikhali ahlukahlukene, noma imisebe.
- Amaphutha angahleliwe ngesikhathi sokuhlukaniswa kwamaseli: Umzimba wethu ufana nefektri esebenza ngokungayeki. Amaseli amasha akhiqizwa ngaso sonke isikhathi. Ngezinye izikhathi amaphutha angenzeka phakathi nale nqubo. La maphutha anganqwabelana ngokuhamba kwesikhathi.
Ingabe kukhona ukuhlolwa kokuthola izinguquko kulezi zakhi zofuzo?
Yebo, kukhona ukuhlolwa kwegazi namathe okungathola ukukhubazeka kulezi zakhi zofuzo ezivimbela umdlavuza. Kodwa kukhona okubaluleke kakhulu okufanele ukuqonde lapha.
Lokhu kuhlolwa akuhlonzi ngqo umdlavuza. Kunalokho, kuhlonza kuphela ukuthi une-genetic mutation eyandisa ingozi yakho yokuba nomdlavuza.
Udokotela wakho kuphela ongakweluleka kangcono ngokuthi uyaludinga yini lolu hlobo lokuhlolwa, uma ubheka impilo yakho kanye nomlando womndeni wakho. Ngakho-ke, kungcono ukukhuluma nodokotela wakho ngakho.
Uyini umehluko phakathi kwe-Tumor Suppressor Genes kanye ne-Oncogenes?
Nakuba zombili lezi zakhi zofuzo zihilelekile ekubangeleni umdlavuza, zisebenza ngezindlela eziphambene. Ake sibuyele esibonelweni sethu semoto.
- Izakhi zofuzo zokucindezela isimila zifana ne -pedal yebhuleki emotweni. Zimisa ukukhula kwamangqamuzana. Uma enye yalezi zakhi zofuzo ishintsha, okungukuthi, uma ibhuleki liphuka, ukukhula kwamangqamuzana akukwazi ukumiswa.
- Ama-oncogene afana ne-accelerator pedal emotweni. Atshela amaseli ukuthi "asheshise" ukukhula kwawo. Uma enye yalezi zakhi zofuzo ishintsha, okungukuthi, uma i-accelerator ibambeka, amaseli aqala ukuhlukana ngokushesha nangokungalawuleki.
Enye noma zombili lezi zindlela ezimbili zokubangela umdlavuza ingakuthinta. Okusho ukuthi, ungacabanga ukuthi kuzokwenzekani uma amabhuleki ephuka bese i-accelerator ivaleka.
Umlayezo Wokuya Nawe Ekhaya
- Emizimbeni yethu, kunezakhi zofuzo ezikhethekile (i-Tumor Suppressor Genes) ezisebenza "njengohlelo lwamabhuleki" oluvimba ukukhula kwamangqamuzana omdlavuza.
- Izinguquko (ukuguqulwa kwezakhi zofuzo) kulezi zakhi zofuzo zingazuzwa njengefa noma zenzeke ngesikhathi sokuphila.
- Ngokuvamile, ukuze umdlavuza ukhule, kumele kube khona iphutha elithile kuzo zombili lezi zinhlobo zofuzo.
- Ukuthola ukuthi unalolu hlobo loshintsho ngokuhlolwa kwezakhi zofuzo akusho ukuthi unomdlavuza, kodwa kusho ukuthi ingozi yakho yokuba nomdlavuza ingahlolwa.
- Khuluma nodokotela wakho njalo ngomlando womdlavuza womndeni wakho kanye nengozi yakho.
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