Pali chidwi chachikulu pakuphunzira zomwe majini athu angatiuze ife tokha. Kodi simungakonde kudziwa ngati muli ndi jini losasinthasintha ("gene variant") limene limayambitsa cholesterol kumwambamwamba kapena kumapangitsa kuti magazi anu asamveke mosavuta musanafike poyesedwa magazi? Kodi sikungakhale bwino kuti mudziwe ngati muli pachiopsezo cha matenda a mtima m'tsogolo mukatha msinkhu, kotero mutha kuyamba mankhwala kuti muteteze?
Pali chisangalalo chochuluka pa lonjezano la kulumikizana kwa maonekedwe ndi momwe angagwiritsire ntchito popanga mankhwala othandiza kwambiri, makamaka kuti azisamalira. Kale, madokotala a khansa ayamba kugwiritsa ntchito zidziwitso za majini kuchokera m'mimba mwa munthu kuti asankhe zomwe amakhulupirira kuti ndizogwiritsidwa ntchito kwambiri. Koma mankhwala ovomerezedwa payekha ali akadali akadakali ndipo sakugwiritsidwa ntchito kwambiri mu cardiology panobe. Chifukwa chiyani? Chifukwa chakuti tikamaphunzira zambiri, timakhala ndi mafunso ambiri.
Kuphunzira Zomwe Anena Zachibadwa
DNA yathu ndi yovuta kwambiri. Aliyense wa ife ali ndi magawo atatu a magulu awiri. Kuti mudziwe kuti pali mitundu yambiri ya jini, tinkangophunzira kuti majini amaoneka ngati otani. Mwamwayi, akatswiri odziŵa zamoyo ankadziŵa mapu a DNA mothandizidwa ndi makompyuta amphamvu. Makina apamwamba angathe kuwerenga mofulumira zizindikirozi mofulumira-ndipo ndondomeko yomwe inatenga zaka 13 kuthetsa ikhoza kuchitika tsiku limodzi.
Kenaka, asayansiwa anayamba kufunafuna majini osagwirizana omwe amapezeka mwa anthu omwe ali ndi matenda ena, kotero amatha kugwirizanitsa pakati pa kusintha kwa thupi ndi chikhalidwe. Izi ziri ngati kupeza zolemba m'mabuku-aliyense ali ndi zizindikiro zingapo mu DNA yawo.
Koma taphunzira kuti kugwirizana sikuli kosavuta.
Mwachitsanzo, tinapeza mitundu yosiyanasiyana ya majeremusi yomwe imatsogolera ku hypertrophic cardiomyopathy , matenda omwe amachititsa mtima kukhala minofu, kukulitsa, ndikumapeto. Kwa nthawi yaitali tadziwa kuti si onse amene amanyamula mliriwu. Izi zikugwiranso ntchito kwa mitundu yosiyana siyana, komanso.
Komanso, posachedwapa akatswiri asayansi atulukira kuti mitundu yosiyanasiyana ya majini ya hypertrophic cardiomyopathy ingakhudze mafuko ena, koma osati ena. Mwachitsanzo, anthu a mtundu wa caucasian omwe ali ndi mitundu yosiyanasiyana ya jini akhoza kuyamba matenda, pamene anthu akuda omwe ali ndi mitundu yosiyana ya jini sangakhale. Sitikudziwa chifukwa chake. Kotero kukhalapo kwa jini kusiyana pakati pa anthu ena kungakhale ndi tanthauzo losiyana kwa ena-zomwe zikutanthauza kuti zinthu zina zingakhale zikusewera.
Kuonjezera apo, pali matenda ambiri omwe amawoneka kuti ali ndi chifukwa cha chibadwa, chifukwa amathamanga m'mabanja, koma sitinathe kuzindikira mitundu yosiyanasiyana yomwe imayambitsa matendawa. Zikutheka kuti pali mitundu yambiri ya mitundu yomwe imakhudzidwa.
Kupita patsogolo
Kuchokera m'malingaliro a mtima, taphunzira kwambiri kuchokera kusintha kosasintha. Zomwe zapezazi zachititsa kumvetsetsa bwino momwe chilengedwe chingathetsere mavutowa. Pali chiyembekezo chochuluka kuti tingagwiritse ntchito chidziwitso chimenechi kuti tipange mankhwala atsopano kuti tipeze matendawa.
Mwachitsanzo, mitundu yosiyanasiyana ya majini imadziwika zaka makumi khumi zapitazo monga kugwirizanitsa ndi chiwindi cholephera kuchotsa cholesterol m'magazi. Anthu omwe ali ndi kusintha kumeneku ali ndi magawo ambiri a m'magazi a cholesterol. Kupeza kumeneku kunagwiritsidwa ntchito popanga mankhwala atsopano a mankhwala a kolesterolini, otchedwa PCSK9 inhibitors, omwe amathandiza odwala omwe amasintha mafutawa m'thupi.
Mankhwalawa amasiya puloteni yotchedwa PCSK9 kuti isasokoneze chizoloŵezi chokhala ndi cholesterol mu chiwindi. Zinatenga zaka zochepera khumi kuchokera pakupezeka kwa PCSK9 njira yopangira mankhwala omwe angagwiritsidwe ntchito kwa odwala.
Izi sizingatheke popanda kudziwa chibadwa.
Maphunziro a zamoyo zimatiyandikira kuti tipeze chithandizo cha hypertrophic cardiomyopathy, komanso. Mankhwala othandiza pogwiritsa ntchito mamolekyu ang'onoting'ono kuti athandizidwe kumene pali mitundu yosiyanasiyana ya majini. Pamene amphaka omwe ali othetsera matendawa amaperekedwa kwa wothandizira, mwayi iwo adzakhazikitsa madontho a mtima owonjezera.
Gawo lotsatira ndi kuyesa njira yomwe anthu ali pangozi ya matendawa. Ngati chithandizocho chikugwira bwino, chidzakhala chonchi popewera hypertrophic cardiomyopathy. Palibe mankhwala omwe alipo kwa omwe ali ndi mwayi waukulu wopanga matendawa chifukwa amanyamula mitundu yosiyana siyana. Zochitika monga izi ndi zosangalatsa kwambiri pamene amasintha njira yathu ku chisamaliro cha odwala kuchokera kuchitapo kanthu kuti atengeke.
Zimene Sitidziwa
Pamene tikuyandikira kumvetsetsa mgwirizano pakati pa kusintha kwa majini ndi matenda, chinthu chachitatu chimachitika kuti tipambane nkhani-momwe majini athu amagwirira ntchito ndi chilengedwe ndi moyo wathu wa tsiku ndi tsiku. Kusonkhanitsa chidziwitso ichi kudzatenga njira yowonetsera maphunziro a zachipatala ndi zaka zambiri kuti zifike pa mayankho.
Komabe, patapita nthawi, tikuyembekeza kuti adzatithandiza kumvetsetsa mafunso ena ofunikira, monga chifukwa chake anthu ena omwe amasuta, amapuma mpweya woipa , kapena amadya zakudya zoperewera zimakhala ndi matenda a mtima pomwe ena samatero. Nkhani yabwino ndi yakuti kafukufuku wamakono akuwonetsanso kuti zizoloŵezi zathanzi, monga kuchita masewero olimbitsa thupi ndi kudya zakudya zathanzi, zingagonjetse zoopsa za matenda a mtima omwe "adzalandire" mwa mitundu yosiyanasiyana ya majini.
Kudzala mu Masoko
Pali zinthu zambiri zosowa za DNA. Mwamwayi, kuyesayesa kwakukulu kwambiri kukuyambanso kusonkhanitsa ndi kusanthula deta yamtunduwu. Cholinga chachikulu ndicho kupereka madokotala chidziwitso chomwe akufunikira kuchiza odwala omwe ali ndi matenda ena.
Ntchito imodzi imatchedwa Precision Medicine Initiative, kapena "All of Us". Ndi ntchito yapaderayi yomwe cholinga chake ndikutulukira kusiyana pakati pa majini, chilengedwe, ndi moyo. Pulojekitiyi idzalembetsa anthu miliyoni imodzi kapena ambiri kudziko lonse lapansi omwe amavomereza kugawa zitsanzo za chilengedwe, ma data, ndi zakudya komanso moyo wawo ndi ochita kafukufuku pamakalata awo azachipatala. Tikuyembekeza kuti mfundo zomwe zasonkhanitsidwa pulogalamuyi zidzathandiza kuti matenda ambiri adziritsidwe bwino.
Kuyesedwa Kwapafupi
Ndalama ya DNA yolemba mayina yatsika kuchokera ku madola zikwi mazana kufika ku mazana a madola-ndipo ikupitirira kuchepa. Pamene mitengo yapansi imapangitsa kuti DNA iyesedwe kwa munthu wamba, tikhoza kuona malonda owonetsa ogulitsa omwe angathandize kuti mabanja adziwone zoopsa za chibadwa, mofanana ndi momwe mungagwiritsire ntchito kachiyeso ka DNA kuti mupeze makolo anu. Tikuphunziranso zomwe zimapangitsa kuti tipeze chidziwitso pa matenda omwe angabweretse matenda.
M'madera azachipatala, tikuyesera kupeza momwe tingagwiritsire ntchito kuyesera kwa DNA kuti tipeze chidziwitso chomwe sitingathe kupyolera mu mayeso ena. Tikapeza chidziwitso, tifunika kudziwa zomwe tingachite ndi izo. Chitsanzo chabwino ndi mtundu wa hypercholesterolemia . Kuyeza kwa DNA kunasonyeza kuti atatu peresenti ya anthu ali pachiopsezo chowonjezereka chifukwa cha vutoli lomwe limayambitsa mitsempha yapamwamba ya cholesterol. Kotero:
- Kodi aliyense ayenera kuyesedwa kuti adziwe izi zitatu?
- Kodi izi ndi zabwino kuposa kugwiritsa ntchito mayeso a m'magazi a cholesterol komanso kutenga mbiri yosamalira banja?
- Nanga bwanji ngati kafukufuku wa DNA akupeza kuti muli ndi chiopsezo chachikulu pa matenda a mtima?
- Kodi izi zawonjezeka kwambiri kuti mutha kuchiritsidwa?
Mafunso ngati awa ayenera kuyankhidwa tisanagwiritse ntchito kuyesera kwa DNA kuti tiwone njira zathu zothandizira.
Kupita Patsogolo
Tangoyamba kuyang'ana pamwamba, koma tikuyembekeza kuti ma genetic adzasintha momwe akatswiri a cardiologist akuyendera odwala ndi mabanja awo ndi mitundu ina ya matenda a mtima, monga mtima wosalimba. Mmodzi mwa akulu asanu alionse amakula mtima. Ndipo matendawa amakhudza ana amodzi m'magulu anayi onse odwala mtima. Tikufuna kuti tiwazindikire anthu awa asanakhale ndi vuto la mtima.
Mwamwayi, zinthu zambiri zosangalatsa zatsopano mu chidziwitso ndi teknoloji zimatipangitsa ife kuthana ndi vutoli lovuta kwambiri. Kudziwa zomwe zingatheke kuyesedwa kwa jini ndi ntchito yovuta, koma yosangalatsa. Aliyense akuyembekezera kuona patsogolo.
Dr. Tang ndi katswiri wa zamoyo ku Cleveland Clinic's Heart and Vascular Institute, nambala ya 1 ya cardiology ndi mapulogalamu a opaleshoni ya mtima monga momwe zilili ndi US News & World Report. Iye ndiyenso Mtsogoleri wa Chigawo cha Clinical Genomics.
> Zotsatira:
> Abul-Husn, Noura S. et al. Kuzindikiritsa za majeremusi za matenda a hypercholesterolemia m'boma limodzi la United States. Sayansi . 2016; 354 (6319): 7000.
> Manrai AK, Funke BH, Rehm HL, ndi al. Zachibadwa Zingasokonezeke ndipo zingatheke kuti asamakhale ndi thanzi labwino. New England Journal of Medicine . 2016; 375 (7): 655-665.
> Stern JA, Markova S, Ueda Y, et al. Kachilombo kameneka kamene kamayambitsa Sarcomere Contractility imathandiza kwambiri kuchoka ku ventricular kutuluka mwachitsulo m'thupi la feline Hypertrophic Cardiomyopathy. MITU YOYAMBA . 2016; 11 (12): e0168407.