Kunomdla omkhulu ekufundeni ukuba izifo zethu zentsholongwane zingasitshela njani ngathi. Ngaba ubungathanda ukungazi ukuba unomdla ongaqhelekanga ("i-gene variant") eyenza i-cholesterol ephakamileyo-phezulu okanye yenza igazi lakho libe lula ngaphambi kokuba lifumaneke ngokuhlolwa kwegazi? Ngaba akunakukunceda ukwazi ukuba usengozini yokuhlaselwa yintliziyo kwintsana, ngoko unokuqalisa unyango ukukhusela?
Kukho uxhamla olukhulu kwisithembiso sokulandelelana kwe-genomic kunye nendlela esingasetyenziswa ngayo ukudala unyango olungaphezulu komntu ngamnye-ngokusisiseko, ukulungiselela ukunyamekela. Sekudlulileyo, oogqirha beengculaza baqala ukusebenzisa ulwazi lwezofuzo ezivela emathunzini omntu ukuba bakhethe oko ba kholelwa ukuba yiyona mveliso efanelekileyo. Kodwa unyango olumntu olusesikweni lusemncinci kwaye alusetyenziswanga ngokubanzi kwi-cardiology. Ngoba? Ngenxa yokuba sifunda ngakumbi, ngakumbi imibuzo esinayo.
Ukufunda Iimpawu Zokuzalwa Zini Okufuneka Uthi
I-DNA yethu iyinkimbinkimbi kakhulu. Ngamnye wethu unezibini ezizigidi zezigidi zeentlobo zegesi. Ukukwazi ukuba yiziphi iimbini zemizimba engavamile, kufuneka siqale sifunde ukuba zeziphi izakhi zofuzo eziqhelekileyo zibukeka ngathi. Ngethamsanqa, izabelo zemvelo zazinikela imephu ye-DNA ngoncedo lwamakhompyutha anamandla. Imishini eyinkimbinkimbi ingafunda ezi khowudi ezinzima ngokukhawuleza-kwaye inkqubo eya kuthatha iminyaka engama-13 ukugqiba ingakwazi ukuyenza ngosuku okanye njalo.
Emva koko, abaososayensi baqala ukukhangela iiglefu ezingavumelekanga ezibonakala kubantu abanezifo ezithile, ngoko banokuqhagamshelana phakathi kokuguqulwa komzimba kunye nemeko. Oku kufana nokufumana iifayile kumaphepha encwadi-wonke umntu uninzi lwe-DNA.
Kodwa sifunde ukuba ukuxhunyezwa akusoloko kuqonde.
Ngokomzekelo, sifumane iintlobo ezahlukeneyo zemfuza ezikhokelela kwi- hypertrophic cardiomyopathy , isifo esibangela ukuba imisipha yenhliziyo iqhube, ikhulise, ize iphumelele. Sekude ixesha siyazi ukuba akubona wonke umntu ophethe le mijelo yemfuza edala isifo. Oku kusebenza kwezinye iimpawu zemizi, ngokunjalo.
Ukongezelela, izazinzulu zifumanisa ukuba i-gene variant in cardiomyopathy inokuchaphazela ezinye iintlanga, kodwa kungekhona abanye. Ngokomzekelo, abantu be-caucasian abanokuhlukumeza i-gene bangahlakulela isifo, ngelixa abantu abamnyama abanesimo esifanayo somzimba bengenako. Asizi kakuhle ukuba kutheni. Ngoko ubukho bezinto ezahlukeneyo kubantu abathile banokuba nengxaki eyahlukileyo kwabanye-oko kuthetha ezinye izinto ezinokudlala.
Ukongezelela, kukho ezininzi izifo ezibonakala ngathi zibangelwa imfuza, ngenxa yokuba zihamba kwiintsapho, kodwa asikwazanga ukuchonga ukuhlukahluka kwemfuza ezibangelwa zona. Kungenzeka ukuba iindidi ezahlukeneyo zemizimba zibandakanyeka.
Ukwenza Intuthuko
Ukusuka kwimbono yentliziyo, sifunde ngakumbi kwiinguqu ezinqabileyo. Ezi zinto zifumene ukuqonda okungcono indlela indalo ingalungisa ngayo le ngxaki. Kukho ithemba elininzi lokuba singasebenzisa le ngqiqo ukuphuhlisa amayeza amasha ukuphatha ezi zifo.
Ngokomzekelo, ukuhlukahluka kwemfuza kwathathwa kwiminyaka elishumi edlulileyo njengoko kudibaniswa nokukhubazeka kwesibindi ukususa i-cholesterol egazini. Abantu abanolu guqulelo banezinga eliphezulu kakhulu ze-cholesterol zegazi. Oku kufunyenweyo kwakusetyenziselwa ukwakha iklasi entsha yeyeza ye-cholesterol, ebizwa ngokuba yi-PCSK9 inhibitors, enceda izigulane zinguqulelo ziququzelele i-cholesterol.
Iyeza liyeka iprotheni ebizwa ngokuba yi-PCSK9 ekuphazamiseleni indlela evumelekileyo yokuchithwa kwe-cholesterol kwisibindi. Kwathatha ngaphantsi kweminyaka elishumi ukusuka ekufumaneni kwe-PCSK9 endleleni eya kuveliswa kweziyobisi ezinokusetyenziswa kwizigulane.
Oku kwakungeke kwenzeke ngaphandle kolwazi lwekhowudi yemfuza.
Izifundo ze-Genetic zisisondeza ekufumaneni unyango lwe-cardiomyopathy ye-hypertrophic, ngokunjalo. Uphuhliso olusetyenziswayo usebenzisa ama-molecule amancinci ukujolisa apho i-variant gene ikhona. Xa iikati ezixhomekeke kwesi sifo zinikwe le nkonzo, ithuba lokuba bahlakulele intsikelelo yentliziyo.
Isinyathelo esilandelayo kukuvavanya ifom ebantwini abasengozini yesifo. Ukuba unyango lusebenza kakuhle, luya kuba yimpumelelo ekukhuseleni i-hypertrophic cardiomyopathy. Akukho nonyango ekhoyo okwangoku kulabo abanakho amathuba okuphuhlisa esi sifo ngenxa yokuba baphatha i-gene variant. Uphuhliso olunjengalezi luyavuya gqitha njengoko litshintsha indlela yethu yokunyamekela isigulane ukusuka ekusebenziseni ukusebenza.
Oko Singazi
Njengoko sifika sisondele ekuqondeni ubudlelwane phakathi kokuguquka kwemfuza kunye nezifo, into yesithathu ibangelwa ukuxubusha imiba-indlela i-geni yethu idibana ngayo nemeko yethu yobomi bemihla ngemihla. Ukuqokelela olu lwazi kuya kuthatha indlela echanekileyo kwizifundo zeklinikhi kunye namashumi eminyaka ukufika kwizimpendulo.
Ekugqibeleni, ke, sinethemba lokuba baya kusinceda siqonde iminye imibuzo ebalulekileyo, njengokuba kutheni abanye abantu abatshitshisileyo, baphefumle umoya ongcolileyo , okanye badle izidlo ezingenasiphelo zenza isifo senhliziyo xa abanye bengenalo. Iindaba ezilungileyo kukuba iingxelo zangoku zibonisa ukuba imikhuba enempilo, njengokuzilolonga rhoqo nokutya ukutya okunempilo, inokukunqoba izingozi zokuhlakulela izifo zentliziyo "ezizuze" ngokwemizi eyahlukileyo.
Ukuzaliswa kwiibhloko
Kukho iinqununu ezininzi ezilahlekileyo zeDNA puzzle. Ngethamsanqa, kukho iinzame ezininzi zokuqokelela nokuhlalutya iinkcukacha ze-genomic. Injongo ephambili kukunika oogqirha ulwazi abanalo ukuphatha izigulane ezinikezela ngesifo esithile.
Omnye umzamo ubizwa ngokuba yi-Precision Medicine Initiative, okanye "All of Us". Kuyiprojekthi ekhethekileyo ekujoliswe kuyo ekuchanizeni ukwahlukana komntu ngamnye kwiijethi, kwendalo kunye nendlela yokuphila. Le projekthi iza kubhalisa isigidimi okanye abathathi-nxaxheba belizwe lonke bavuma ukwabelana ngeesampula ze-biological, idatha yezofuzo, kunye nokutya kunye nenkcazelo yokuphila nabaphandi ngokusebenzisa iirekhodi zabo zonyango. Kuthemba ukuba ulwazi oluqokelelwe kule nkqubo luya kubangela unyango oluchanekileyo kwizifo ezininzi.
Ukuhlaziywa
Iindleko ze-DNA yokulandelela ziye zahla kumawaka eedola ukuya kumawaka eedola-kwaye iyaqhubeka nokuhla. Njengoko amanani aphantsi awenza uvavanyo lwe-DNA lufikeleleke kumntu oqhelekileyo, sinokubona ukuthengiswa okuthe ngqo kubathengi okuya kubangela ukuba iintsapho zifumane ingozi yemfuyo, njengokuba sele usebenzisa i-DNA test to discover your ancestry. Sisafunda impembelelo yendlela ukufumana ulwazi ngengozi yesifo kunokuchaphazela impilo yabantu kunye nokuphila.
Kwihlabathi lezonyango, sizama ukuqonda indlela yokusebenzisa ukuhlolwa kwe-DNA ukuze sifumane ulwazi esingenakukwazi ukufikelela kwezinye iintlobo zokuvavanya. Xa sithe safumana ulwazi, sifuna ukwazi ukuba senze ntoni nalo. Umzekelo omhle yi -hypercholesterolemia yentsapho . Ukuhlolwa kwe-DNA kuye kwabonisa ukuba ipesenti zabantu abathathu bafumana ingozi yokuba le meko ibangela iingozi zegazi ze-cholesterol. Ngoko:
- Ngaba wonke umntu kufuneka ahlolwe ukufumana ezi zithathu?
- Ngaba oku kungcono kunokusebenzisa ukuhlolwa kwegazi ye-cholesterol kunye nokuthatha imbali yolondolozo lweentsapho?
- Kuthekani ukuba uvavanyo lwe-DNA lufumana ukuba unobungozi obukhulu beepesenti ezininzi zesifo senhliziyo?
- Ingaba oku kuphakanyiswe ingozi ephezulu ukuze ufanele unyango?
Imibuzo efana nale ifuna ukuphendulwa ngaphambi kokuba sisebenzise ukuhlolwa kwe-DNA ukuze sikwazi ukunyanga indlela yokwelapha.
Ukuya phambili
Sisanda kuqalisa ukukhangela ubuso, kodwa silindele ukuba i-genetics iza kugqityha ukuba i-cardiologists ihlolisise izigulane kunye neentsapho zabo ngeendlela ezithile zesifo senhliziyo, ezifana nokuhluleka kwentliziyo. Omnye kulaba bantu abadala abahlanu udala ukungaphumeleli kwentliziyo. Yaye eso sifo sichaphazela abantwana besinye seentliziyo ezine. Sinqwenela ukuchonga aba bantu ngaphambi kokuba bavelise ukungaphumeleli kwintliziyo.
Ngombulelo, ezininzi iinkqubela ezitsha ezonwabisayo kolwazi kunye nobuchwephesha zisenza sikwazi ukujongana nale puzzlizi enzima kakhulu. Ukuchonga ubunako bokuvavanya i-gene ngumsebenzi onzima, kodwa unomdla. Wonke umntu ulindele ukubona inkqubela phambili.
UDkt. Tang uyisifo se-cardiologist kwiCleveland Clinic Heart and Vascular Institute, iNombolo yeSizwe ye-1 ye-cardiology kunye nenkqubo yokuhlinzwa kwentliziyo njengoko ichongiwe yi-US News & World Report. Ungumlawuli weZiko leZikliniki zeGenesis.
> Imithombo:
> Abul-Husn, Noura S. et al. Ukuchongwa kwe-Genetic ye-hypercholesterolemia yentsapho kwinkqubo eyodwa yokunakekelwa kwezempilo eMelika. Sayensi . 2016; 354 (6319): 7000.
> Manrai AK, Funke BH, Rehm HL, et al. I-Genetic Misdiagnoses kunye nefuthe lokungafani kwempilo. I-New England Journal of Medicine . 2016; 375 (7): 655-665.
> Stern JA, Markova S, Ueda Y, et al. I-molecule ye-inhibitor ye-Sarcomere Inkontileka iyanciphisa i-ventricular exflow tract obstruction kwi-Hypertrophic Cardiomyopathy. I-PLOS ONE . 2016; 11 (12): e0168407.