Kunesithakazelo esikhulu ekufundeni ukuthi izakhi zethu zofuzo zingasitshela ngathi. Ngeke yini uthande ukwazi ukuthi unesisindo esingavamile ("i-gene variant") esibangela i-cholesterol esiphezulu-phezulu noma yenza i-blood clot yakho ibe lula ngaphambi kokuba itholakale ngokuhlolwa kwegazi okujwayelekile? Ngeke yini kube usizo ukwazi ukuthi usengozini yokuhlasela kwenhliziyo esikhathini esizayo lapho usencane, ngakho ungaqala ukwelashwa ukuyivimbela?
Kukhona injabulo enkulu phezu kwesithembiso sokulandelana ngokwemvelo nokuthi singasetshenziswa kanjani ukwakha ukwelashwa okuphumelelayo komuntu ngamunye-ngokuyinhloko, ukuzenzela ngokwezifiso. Kakade, odokotela benomdlavuza baqala ukusebenzisa ulwazi lwezofuzo ezivela emathunjini omuntu ukukhetha lokho abakakholelwa ukuthi yimithi ephumelela kakhulu. Kodwa imithi eyenziwe ngezifiso isengumntwana wayo futhi ayisebenzisi ngokubanzi emqondweni wezinhliziyo. Kungani? Ngenxa yokuthi siqhubeka sifunda, imibuzo esengeziwe esinayo.
Ukufunda Lokho Okushiwo Yizizukulwane
I-DNA yethu iyinkimbinkimbi emangalisayo. Ngamunye wethu unamabhilidi ayisithupha wezigesi. Ukuze wazi ukuthi yiziphi izakhi zofuzo ezingavamile, kufanele siqale sifunde ukuthi yiziphi izakhi zofuzo ezivamile ezibukeka ngathi. Ngenhlanhla, izakhi zofuzo ezizinikezele zakwazi ukubalaza i-DNA ngosizo lwamakhompyutha anamandla. Imishini eyinkimbinkimbi ingafunda lezi zikhombisi eziyinkimbinkimbi ngokushesha-futhi inqubo eyathatha iminyaka engu-13 ukuqedela manje ingenziwa ngosuku noma ngaphezulu.
Ngokulandelayo, laba ososayensi baqala ukufuna izakhi zofuzo ezingavamile ezivela kubantu abanezifo ezithile, ngakho-ke bangenza uxhumano phakathi kokuguquka komzimba nesimo. Lokhu kufana nokuthola amakhophi emakhasini encwadi-wonke umuntu unezinhlamvu eziningana kwi-DNA yazo.
Kodwa sifunde ukuxhumeka akuhlali njalo ngokuqondile.
Isibonelo, sithole ukuhlukahluka kwezakhi zofuzo eziholela ekutheni i- hypertrophic cardiomyopathy , isifo esibangela ukuba imisipha yenhliziyo iqhube, ikhulise, futhi ekugcineni ihluleke. Sekuyisikhathi eside sazi ukuthi akuwona wonke umuntu ophethe lo gciwane ohlukumezayo owenza lesi sifo. Lokhu kusebenza kwezinye izici zezakhi zofuzo, futhi.
Ngaphezu kwalokho, ososayensi basanda kubona ukuthi ukuhlukahluka kwezakhi zofuzo emzimbeni we-hypertrophic cardiomyopathy kungathinta ezinye izinhlanga, kodwa hhayi ezinye. Isibonelo, abantu be-caucasian abanesisindo sezakhi bangase bahlakulele isifo, kanti abantu abamnyama abanezici ezifanayo zesiginalo kungenzeka. Asazi kahle ukuthi kungani. Ngakho ukuhluka kofuzo kwabanye abantu kungase kube nokuthile okuhlukile kwabanye-okusho ukuthi ezinye izinto zingase zidlalwe.
Ngaphezu kwalokho, kunezifo eziningi ezibonakala zinezizathu zofuzo, ngoba zigijima emindenini, kepha asikwazanga ukubona izihlukahluko zofuzo ezibangela zona. Kungenzeka ukuthi kuhileleke ukuhlukahluka kwezakhi zofuzo eziningi.
Ukwenza Intuthuko
Ngokombono wezinhliziyo, sifunde kakhulu ekushintsheni okungavamile. Lokhu kutholakala kuye kwaholela ekuqondeni kangcono ukuthi imvelo ingalungisa kanjani lezi zinkinga. Kukhona ithemba eliningi lokuthi singasebenzisa lokhu kuqonda ukuthuthukisa izidakamizwa ezintsha ukuphatha lezi zifo.
Isibonelo, ukuhlukahluka kofuzo kubonakala eminyakeni eyishumi edlule njengoba kuhlotshaniswa nokuhluleka kwesibindi ukususa i-cholesterol egazini legazi. Abantu abanokuguqulwa kwegazi banezinga eliphezulu kakhulu legazi le-cholesterol. Lokhu kutholakala kwakusetshenziselwa ukwakha iklasi elisha lemithi ye-cholesterol, ebizwa ngokuthi i-PCSK9 inhibitors, esiza iziguli ezishintshashintshayo ziqukethe i-cholesterol.
Imithi ivimba iphrotheni ebizwa nge-PCSK9 ekuphazamiseni indlela evamile yokukhipha i-cholesterol esibindi. Kuthatha okungaphansi kweyishumi kusukela ekutholeni kwe-PCSK9 endleleni eya ekukhiqizweni komuthi ongasetshenziswa kuziguli.
Lokhu kwakungenakwenzeka ngaphandle kokwazi ikhodi yezofuzo.
Ucwaningo lwe-genetic lusisondeza ekutholeni ukwelashwa kwe-cardiomyopathy ye-hypertrophic, futhi. Ukwelashwa okusha ngokusebenzisa ama-molecule amancane ukukhomba lapho i-variant gene ikhona khona. Uma amakati ajwayele lesi sifo anikezwa le-agent, ithuba lokuthi bayohlakulela amaconsi enhliziyo ekhulisiwe.
Isinyathelo esilandelayo ukuhlola ifomula kubantu abasengozini yesifo. Uma ukwelashwa kuphumelela, kuyoba impumelelo ekuvimbeleni i-hypertrophic cardiomyopathy. Ayikho ukwelashwa okwamanje kulabo abanamathuba amaningi okuthuthukisa lesi sifo ngenxa yokuthi baphatha i-gene variant. Ukuthuthukiswa okufana nalokhu kuyathandeka kakhulu njengoba kushintsha indlela yethu yokunakekelwa kwesineke kusuka ekusebenzeni okusebenzayo.
Lokho Esingazi
Njengoba sisondela ekuqondeni ubudlelwane obuphakathi kwezakhi zofuzo nezifo, isici sesithathu sibangelwa ukucindezela izindaba - ukuthi izakhi zethu zofuzo zixhumana kanjani nemvelo kanye nempilo yethu yansuku zonke. Ukubutha lolu lwazi kuzothatha indlela ehlelekile yokufundwa kwemitholampilo kanye namashumi eminyaka ukufika ngezimpendulo.
Ekugcineni, sithemba ukuthi bazosisiza ukuba siqonde imibuzo ethile eyisisekelo, njengokuthi kungani abanye abantu ababhemayo, baphefumulela umoya ongcolisiwe , noma badle ukudla okungekho emthethweni bathuthukise isifo senhliziyo ngenkathi abanye bengaboni. Izindaba ezinhle ukuthi izifundo zamuva ziphakamisa nokuthi imikhuba enempilo, njengokuzivocavoca njalo nokudla ukudla okunempilo, inganqoba izingozi zokuthuthukisa izifo zenhliziyo "ezizuzwa njengefa" ngokuhlukahluka kwezakhi zofuzo.
Ukugcwalisa ku-Blanks
Kukhona izingcezu eziningi ezilahlekile ze-DNA puzzle. Ngenhlanhla, kwenziwa imizamo emikhulu yokuqoqa nokuhlaziywa kwedatha yemvelo. Umgomo oyinhloko ukunikeza odokotela ulwazi abaludinga ukuphatha iziguli ezihambisa ngesifo esithile.
Omunye umzamo ubizwa ngokuthi i-Precision Medicine Initiative, noma "Bonke Sonke". Kuyinto iphrojekthi eyingqayizivele ehlose ukukhomba ukungezwani kwamanye amajinini, imvelo, kanye nendlela yokuphila. Le phrojekthi izobhalisa abayisigidi noma abahlanganyeli abaningi ezweni lonke abavuma ukwabelana ngamasampuli e-biological, idatha yezofuzo, nokudla kanye nokuphila kolwazi nabacwaningi ngokusebenzisa amarekhodi abo wezokwelapha. Kuthemba ukuthi ulwazi oluqoqwe kulolu hlelo luzoholela ekunakekeleni okunembile kwezifo eziningi.
Ukuhlolwa okungabizi
Izindleko zokulandelana kwe-DNA kuyehla ezinkulungwaneni zamaRandi kuya kuma-dollar-futhi iyaqhubeka nokunciphisa. Njengoba amanani aphansi enza ukuhlola kwe-DNA kufinyeleleke kumuntu ovamile, cishe sizobona ukumaketha okuqondile okuya kubathengi okuzovumela imindeni ukuba ibone izingozi zezakhi zofuzo, njengendlela ongayisebenzisa ngayo kakade ukuhlolwa kwe-DNA ukuthola ukhokho lwakho. Sisafunda impendulo yokuthi ukuthola ulwazi mayelana nezinkinga zesifo kungathinta kanjani impilo yabantu nokuphila kahle.
Ezweni lezokwelapha, sizama ukuthola ukuthi singasebenzisa kanjani ukuhlolwa kwe-DNA ukuthola ulwazi esingeke siphumelele kwezinye izinhlobo zokuhlolwa. Uma sithola ulwazi, sidinga ukwazi ukuthi senzeni nalo. Isibonelo esihle i- hypercholesterolemia yomndeni . Ukuhlolwa kwe-DNA kwembise ukuthi amaphesenti amathathu abantu asengozini eyengeziwe ngoba lesi simo esibangela amazinga aphezulu e-cholesterol egazini. Ngakho:
- Ingabe wonke umuntu kufanele ahlolwe ukuze athole la maphesenti amathathu?
- Ingabe lokhu kungcono kunokusebenzisa i-standard standard yegazi ye-cholesterol nokuthatha umlando womndeni oqaphele?
- Kuthiwani uma ukuhlola kwe-DNA kuthola ukuthi unengozi ephakeme engamaphesenti amahlanu ehlobo oluhlukile lwesifo senhliziyo?
- Ingabe lokhu kukhulisa ingozi ephakeme ngokwanele ukuthi kufanele uphathwe?
Imibuzo efana nale idinga ukuphendulwa ngaphambi kokuthi sisebenzise ukuhlolwa kwe-DNA ukuze kulungiswe izindlela zokwelapha.
Qhubekela phambili
Sesisanda kuqalisa ukuhlola ubuso, kepha silindele ukuthi izakhi zofuzo zizoshintsha ukuthi izifo ze-cardiologists zihlola kanjani iziguli nemindeni yabo ngezinhlobo ezithile zesifo senhliziyo, njengokuhluleka kwenhliziyo. Omunye kulaba bantu abadala abahlanu uqala ukwehluleka kwenhliziyo. Futhi lesi sifo sithinta izingane zodwa kuzo zonke iziguli ezine ukuhluleka kwenhliziyo. Sithanda ukukhomba laba bantu ngaphambi kokuthuthukisa ukuhluleka kwenhliziyo.
Ngokujabulisayo, izenzakalo ezintsha ezithakazelisayo ezolwazi nolwazi lobuchwepheshe zenza sikwazi ukubhekana nalesi puzzle esiyinkimbinkimbi kakhulu. Ukubona okusemandleni okuhlolwa kofuzo kuwumsebenzi odambisayo, kodwa okuthakazelisayo. Wonke umuntu ubheke phambili ukubona intuthuko.
UDkt. Tang ungumhlengikazi weCleveland Clinic's Heart and Vascular Institute, uhlelo lukaNobhala lwe-cardiology kanye nenqubo yokuhlinza inhliziyo njengoba kuvezwe yi-US News & World Report. Ungumqondisi we-Centre for Clinical Genomics.
> Imithombo:
> Abul-Husn, Noura S. et al. Ukuhlonza i-genetic hypercholesterolemia ngaphakathi kwesistimu eyodwa yokunakekela impilo ye-US. Isayensi . 2016; 354 (6319): 7000.
> Manrai AK, Funke BH, Rehm HL, et al. I-Genetic Misdiagnoses kanye nekhono lokungafani kwezempilo. I-New England Journal of Medicine . 2016; 375 (7): 655-665.
> Stern JA, uMarkova S, Ueda Y, et al. I-molecule encane inhibitor ye-Sarcomere Contractility iyanciphisa kakhulu ukushiya kwe-ventricular outflow yokuvimbela e-feline Hypertrophic Cardiomyopathy. I-PLOS ONE . 2016; 11 (12): e0168407.