Iko kune ruzivo rwakanyanya mukudzidza izvo magisi edu anogona kutitaurira pamusoro pedu. Iwe haungadi here kuziva kana iwe uine maitiro asina kukodzera ("gene variant") anokonzera kudenga-high cholesterol kana kuti kuita kuti ropa rako rive nyore nyore risati rawanikwa nehuwandu hwekuedzwa kweropa? Hazvizombobatsiri kuziva here kana uri mungozi yekushungurudzika kwemoyo mune ramangwana mudiki, saka iwe unogona kutanga utachiona kuti uzvidzivirire?
Pane zvakawanda zvekufadzwa pamusoro pevimbiso ye genomic sequencing uye kuti ingashandiswa sei kugadzira mishonga inobatsira kune mumwe munhu-mumutauro wekutanga, kuti munhu aite zvakanaka. Iko kare, vanachiremba vane kenza vanotanga kushandisa mazita ehutachiona kubva mumakumbo evanhu kuti vasarudze zvavanotenda kuti ndiyo inonyanya kushandisa mishonga. Asi mushonga wevanhu iwe pachako uchiri mucheche uye hauna kushandiswa zvakanyanya muhutano hwehupenyu. Sei? Nemhaka yokuti patinowedzera kudzidza, mimwe mibvunzo yatinayo.
Kudzidza Ndezvipi Zvisikwa Zvokutaura
DNA yedu yakaoma kunzwisisa. Mumwe nomumwe wedu ane mamiriyoni matatu akaenzana maviri maviri ejeni. Kuti uzive kuti zvipi zviviri zvemajini hazvina kujairika, isu taifanira kutanga tadzidza kuti zvii zvemajini zvakafanana. Nenzira yakanaka, mazita ekuzvidzivirira mazita akashandura mapepa eDNA nekubatsirwa nemakombiyuta ane simba. Mishonga yakakosha inogona kuverenga nheyo idzi dzakaoma nekukurumidza-uye nzira yakatora makore gumi nemakore ekupedzisa ikozvino inogona kuitwa mune rimwe zuva kana kudaro.
Zvadaro, masayendisiti aya akatanga kutsvaga maitiro ezvisikwa zvisingaoneki akaonekwa kune vanhu vane dzimwe zvirwere, saka vanogona kugadzira kuwirirana pakati pekuchinja uye mamiriro acho ezvinhu. Izvi zvakafanana nokuwana zvinyorwa mumapeji ebhuku-munhu wose ane zvinyorwa zvakawanda muDNA yavo.
Asi tadzidza kubatana hakusi nguva dzose.
Somuenzaniso, takawana mitauro yakasiyana-siyana inotungamirira ku hypertrophic cardiomyopathy , chirwere chinokonzera mwoyo musumbu kuvhara, kuwedzera, uye pakupedzisira kukundikana. Kwemazuva akawanda takaziva kuti havasi vose vanotakura jenisi iyi iri kuwedzera chirwere chacho. Izvi zvinoshanda kune mamwe mazita akasiyana-siyana, zvakare.
Uyezve, masayendisiti munguva pfupi yapfuura akawana kuti maitiro akasiyana mu hypertrophic cardiomyopathy angakanganisa mamwe marudzi, asi kwete vamwe. Semuenzaniso, vanhu veCaucasian vane ruzivo rwakasiyana-siyana vanogona kuve nechirwere, nepo vanhu vemavara vane maitiro akasiyana-siyana vangave vasina. Hatizivi chaizvo nei. Nokudaro kuvapo kwegene kuchinjwa kune vamwe vanhu kunogona kuva nechinangwa chakasiyana kune vamwe-izvo zvinoreva zvimwe zvimwe zvingave zviri kutamba.
Mukuwedzera, pane zvirwere zvakawanda zvinoratidzika kuva nechikonzero chekuberekwa, nokuti dzinomhanya mumhuri, asi isu hatina kukwanisa kuziva mazita akasiyana-siyana anoita kuti vaite. Zvichida kuti mazita emarudzi akasiyana-siyana anoshandiswa.
Kufambira Mberi
Kubva pamaonero emoyo, takadzidza zvakanyanya kubva kuzvinhu zvisingachinji. Izvi zvakawanikwa zvakakonzera kunzwisiswa zviri nani kuti zvisikwa zvinogona kugadzirisa sei matambudziko aya. Kune tariro yakawanda yokuti tinogona kushandisa izvi kunzwisisa kuti tive nemishonga mitsva yekurapa zvirwere izvi.
Semuenzaniso, gumi rekusiyana rakaratidzwa makore makumi maviri apfuura sekubatanidzwa nechiropa chisingaiti kubvisa cholesterol kubva muropa. Vanhu vane mutsauko uyu vane nhepfenyuro yepamusoro yeholesterol yeropa. Uku kuwanikwa kwakashandiswa kugadzira boka idzva remishonga yeketserolin, inonzi PCSK9 inhibitors, iyo inobatsira varwere vane kuchinja kwechimiriridza cholesterol.
Mishonga inomisa puroteni inonzi PCSK9 kuti irege kupindira nejairika yeku cholesterol yokugadzirisa maitiro muropa. Zvinotora zvishoma kudarika gumi kubva pakuwanikwa kwePCSK9 mugwagwa kusvika pakugadzirwa kwemishonga inogona kushandiswa muvarwere.
Izvi zvingadai zvisina kuitika pasina ruzivo rwemajini.
Genetics zvidzidzo zviri kutiswededza pedyo nekuwana mushonga we hypertrophic cardiomyopathy, zvakare. Chirongwa chinoshandiswa kushandiswa uchishandisa maserolekisi maduku kuti atarise apo nzvimbo yakasiyana-siyana iripo yakagadzirwa. Apo makate anokonzerwa nechirwere ichi anopiwa uyu mujeri, mukana wekuti achakudziridza matonho emwoyo akawedzerwa.
Nhanho inotevera ndeyokuedza maitiro evanhu vari pangozi yechirwere. Kana mushonga wacho uchibudirira, huchava kubudirira mukudzivirira hypertrophic cardiomyopathy. Hapana kurapwa ikozvino kune avo vane mikana yakawanda yekuvandudza chirwere ichi nokuti vanotakura genisi yakasiyana. Kubudirira kwakafanana neiyi kunofadza zvikuru sezvavanoshandura nzira yedu kumutano wekutarisa kubva pakuita basa rekuita basa.
Zvatisingazivi
Sezvatinoswedera pedyo nekunzwisisa ukama huri pakati pekuchinja kwemajeni uye zvirwere, chechitatu chinokonzera kukonzera nyaya-kuti majeni edu anobatana sei nemamiriro ehupenyu uye mararamiro edu ezuva nezuva. Kuunganidza ruzivo urwu kunotora nzira yakarongeka yezvidzidzo zvechiremba uye makumi emakumi emakore kusvika pamhinduro.
Pakupedzisira, isu tinotarisira kuti vachatibatsira kunzwisisa mamwe mibvunzo inokosha, yakadai sekuti sei vamwe vanhu vanosvuta, kufema mweya yakasvibiswa , kana kudya kudya kwakashata kunouyisa chirwere chemwoyo apo vamwe vasingaiti. Mashoko akanaka ndeokuti kuongorora kwemazuva ano kunoratidzawo kuti tsika dzakanaka, sekudzidzira nguva dzose uye kudya kudya kwakanaka, zvinogona kukurira zvipingamupinyi zvekuita zvirwere zvepfungwa izvo "zvakagamuchirwa" kuburikidza nemhando dzakasiyana-siyana.
Kuzadza muBlue
Pane zvakawanda zvekushayikwa kweDNA puzzle. Nenzira yakanaka, huwandu hwakawanda huri kuitwa huri kuenderera mberi kuunganidza uye kuongorora nhoroondo ye genomic. Chinangwa chikuru ndechokupa vanachiremba ruzivo rwavanoda kurapa varwere vanopa nechimwe chirwere.
Imwe miedzo inonzi Precision Medicine Initiative, kana kuti "All of Us". Icho chinangwa chakasiyana chinangwa chekuziva kusiyana kwemajeri, maitiro, uye mararamiro. Izvo chirongwa chichanyora mamiriyoni kana kupfuura vatori vechikamu munyika yose vanobvumirana kugovana samples, genetic data, uye kudya uye mararamiro ehupenyu nevanotsvakurudza kuburikidza nemabhuku avo emagetsi ezvemagetsi. Zvinotarisirwa kuti ruzivo rwakananidzwa kuburikidza nehurongwa urwu huchaguma nekurapa kwakanyanya kwezvirwere zvakawanda.
Cheaper Testing
Mari inoshandiswa neDNA yekugadzirisa yakaderera kubva kune zviuru zvemadhora kusvika mazana emadhora-uye inoramba ichiderera. Sezvo mutengo wakaderera unoita kuongorora kweDNA kunowanikwa kune munhu akawandisa, isu tinogona kuona kuwedzera-ku-kutengesa vatengi izvo zvichabvumira mhuri kuti dzione hutachiona hwehutachiona hunopisa, hwakafanana nekuti iwe unogona sei kushandisa kuongorora kweDNA kuti uwane madzitateguru ako. Tichiri kudzidza zvinorehwa nekuwana kuwana ruzivo nezvehutachiwana hwehutano kunogona kukanganisa hutano hwevanhu nekugara zvakanaka.
Munyika yezvokurapa, tiri kuedza kuziva kuti tingashandisa sei kuedza kweDNA kuwana ruzivo rusingakwanisi kuburikidza nemamwe marudzi ekuedzwa. Kana tikangowana ruzivo, tinofanira kuziva zvatinofanira kuita nayo. Muenzaniso wakanaka ndeyemhuri hypercholesterolemia . DNA kuongorora kwakaratidza kuti vatatu muzana yevanhu vari pangozi yakawanda yechiitiko ichi chinokonzera ngozi yakanyanya yeholesterol mazinga. Saka:
- Munhu wose anofanira kuongororwa kuti awane izvi zvikamu zvitatu here?
- Izvi zviri nani here pane kushandisa chirwere cheropa cholesterol uye kutora nhoroondo yemhuri?
- Zvakadini kana kuongororwa kweDNA kunoona kuti une dambudziko rekurwisana ne5 muzana yehutano hwemwoyo?
- Izvi zvinowedzera njodzi yakakwirira zvokuti iwe unofanirwa kurapwa here?
Mibvunzo yakafanana iyi inoda kupindurwa tisati tashandisa kuongororwa kweDNA kuti tibatsire nzira dzedu dzokurapa.
Kufambira Mberi
Isu tangotanga kupararira pasi, asi tinotarisira kuti mageneti achazoshandura maitiro eti cardiologists anoongorora varwere nemhuri dzavo nemamwe marudzi ehutano hwemoyo, zvakadai sekushaya mwoyo. Chimwe chevanhu vakuru vashanu chinoita kuti mwoyo usakundikana. Uye chirwere ichi chinokanganisa vana vemunhu mumwe nemoyo mana kukanganiswa kwevarwere. Tinoda kuziva vanhu ava vasati vatanga kukundikana kwemoyo.
Ndinofara, dzakawanda zviitiko zvinonakidza zvitsva mune ruzivo uye teknoloji zviri kuita kuti tigone kutarisa iyi puzzles yakaoma kunzwisisa. Kuziva kuti zvinokonzera kuongorora maitiro ndeipi chinotyisa, asi chinonakidza. Munhu wose anotarisira kuona kufambira mberi.
Dhiyabhorosi Tang mucheche wezvinyorwa kuCleveland Clinic's Heart uye Vascular Institute, nhamba yeNyika 1 ye cardiology uye chirongwa chekuvhiya mwoyo sezvinotsanangurwa ne US News & World Report. Ndiyewo Mutungamiriri weCentral for Clinical Genomics.
> Sources:
> Abul-Husn, Noura S. et al. Kuzivikanwa kweGenetic yemhuri ye hypercholesterolemia mune imwe sangano rekuchengetedza Utano hweUnited States. Sayenzi . 2016; 354 (6319): 7000.
> Manrai AK, Funke BH, Rehm HL, et al. Genetic Misdiagnoses uye zvinogona kukanganisa utano. New England Journal of Medicine . 2016; 375 (7): 655-665.
> Stern JA, Markova S, Ueda Y, et al. Iko kemukoro inhibitor yeSarcomere Kushanda kunoderedza kusara kwe ventricular kunze kwekudzivirira muFinine Hypertrophic Cardiomyopathy. PLOS ONE . 2016; 11 (12): e0168407.