Ukuvivinya ama-Genetics kwesifo sikaParkinson kungadlala indima ebalulekile ekuxilongweni
Ukuvivinya ngezifo kulesifo sikaParkinson kungadlala indima ebalulekile ekutholeni ukugula. Ososayensi banethemba lokuthi ulwazi olunikezwa izakhi zofuzo luzogcina luyeke kancane noma luyeke ukuqhubeka kwalo.
Izidalwa zitholakala ku-DNA yethu, izingxenye zefa ezikhomba izici ezedluliselwa kumzali kuya komntwana. Sizuze ama-gridi angu-3 amabhiliyoni wezakhi zofuzo kumama nobaba.
Bakhetha umbala wamehlo ethu, ukuthi ubude kangakanani nokuthi, kwezinye izimo, ingozi esinayo ekuthuthukiseni izifo ezithile.
Njengesidokotela, ngiyazi indima ukuthi izakhi zofuzo zidlala ekunqumeni impilo yethu. Isilinganiso sethonya ukuthi izakhi zethu zofuzo ziyehluka ngokuya ngesifo, kodwa kokubili izici zemvelo kanye nezakhi zofuzo zifaka isandla ekuthuthukiseni ukugula ngezinga elithile.
Ukuvivinya ama-Genetics eziguleni zikaPasinson
Esigungwini sikaPasinson, iningi lamacala yilokho esikubiza ngokuthi i-sporadic ngaphandle kwesizathu esibonakalayo. Lezi zinkinga "ezingekho emndenini" zisho ukuthi akekho amanye amalungu omndeni anama-Parkinson. Kodwa-ke, cishe amaphesenti ayisishiyagalolunye abantu abathintekayo ngeParkinson banesihlobo sokuqala (umzali, umntakwethu noma umntwana) ophila nalesi sifo. Kulezi zenzakalo zomndeni, izakhi zofuzo eziguqulwayo ezibangela lesi sifo zingathathwa njengefa eliphakeme noma eliphindaphindiwe.
Izihlobo eziningi ezithintekayo ezizukulwaneni ezahlukene zivame ukutholakala emindenini enesisindo esiyinhloko seGeninson. Isibonelo salolu hlobo lwefa yi-genetic mutation SNCA eholela ekukhiqizeni amaprotheni okuthiwa i-alpha-synuclein. Le phrotheni yenza imizimba yaseLewy etholakala ebuchotsheni babantu abaneParkinson.
Ezinye izinguquko - LRRK2, VPS35, ne-EIF4G1 - nazo zizuzwe njengefa.
Ngokuphambene nalokho, ukuguquguquka okuguquguqukayo okusebenza njengengozi yokuthuthukiswa kwesifo sikaParkinson kuboniswa ngamacala esizukulwaneni esisodwa njengabantwana bakithi. Izakhi zofuzo ze-PARKIN, PINK1, ne-DJ1 zinezibonelo zalolu hlobo lwefa.
Lezi ezinye zezinguquko ezaziwa kodwa kunezinto eziningi ezitholakala ngokuqhubekayo. Kodwa-ke, khumbula ukuthi izinhlobo eziningi zezakhi zofuzo zinamazinga aphansi okukhuluma noma ukungena ngaphakathi okusho ukuthi nje ngoba unesisindo asisho ukuthi uzothola i-Parkinson. Ngisho nasendabeni yokuguqulwa kwe-LRRK2, okuyizinto ezivelele emvelweni, ukuba khona kwegesi akulingani ukuthuthukiswa kwesifo.
Ukuhlolwa Kwama-Genetic Kwenziwe Kanjani Ku-Parkinson?
Udokotela wakho angase asiphakamise ukuthi ukuhlolwa kwe-Parkinson yakho kusemncane (engaphansi kweminyaka engama-40 ubudala), uma izihlobo eziningi emlandweni womndeni wakho nazo zitholwe ukuthi zinesimo esifanayo, noma uma usengozini enkulu yePalinson yomndeni esekelwe ubuhlanga (labo abanezizinda zase-Ashkenazi noma zaseNyakatho Afrika).
Kodwa-ke, kuyini inzuzo yokuba nokuhlolwa kwenziwe okwamanje?
Lolu lwazi lungabalulekile ekuhleleni komndeni kwabanye abantu nakuba ngitsho ukuthi noma ngabe isakhi sofuzo sidluliselwa kuso akulutholi ukuthuthukiswa kwesifo. Kodwa-ke, ingozi iphezulu kakhulu ekuguquleni kwezakhi zofuzo ngokubhekene nokunciphisa ngokweqile, ngokwesilinganiso uma umuntu enesihlobo sokuqala se-Parkinson sika (umzali noma umntakwethu) ingozi yabo yokuthuthukisa lesi sifo ingaphezulu kwamaphesenti angu-4 kuya kwangu-9 umphakathi jikelele.
Khumbula ukuthi okwamanje kumuntu ovivinywayo, alukho ushintsho ekwelapheni kwesifo sabo se-Parkinson esekelwe ekutholeni kwezesayensi. Esikhathini esizayo, noma kunjalo, uma kukhona ukwelashwa okunciphisa ukuqala kwesifo noma ukuvimbela ukuthi ingathuthuki nhlobo, ukuhlonza kwalabo bantu abasengozini kuyoba kubaluleke kakhulu.
Ukuhlolwa kwe-Genetics kanye noPhando lwe-Parkinson
Nakuba kungase kube khona inzuzo ngokuqondile kuwe okwamanje, imiphumela yokuhlolwa kwezakhi zofuzo ingasiza olunye uphenyo lukaParkinson ngokuvumela ososayensi ukuba baqonde kangcono lesi sifo futhi ngaleyo ndlela bahlakulele ukwelashwa okusha. Isibonelo, ukuguqulwa kwesiginja esibonisa amaprotheni alpha-synuclein (SNCA) kuholela ohlotsheni oluthile lwesifo somndeni kaParkinson. Nakuba lokhu kushintshana kuphela kubandakanya amaphesenti amancane amacala, ulwazi lomsindo oluthile luye lwaba nemiphumela ebanzi. Ukutadisha lokhu kuguqulwa kwezifuzo kwaholela ekutholeni ukuthi i-alpha-synuclein ihlangana ndawonye ukuze ihlanganise imizimba yeLeby eye yatholakala njalo ebuchosheni babo bonke abantu abanesifo sikaPasinson hhayi nje labo abanokuguqulwa kwe-SNCA. Ngakho-ke, ukuguquguquka kwesakhi sofuzo kuye kwaholela ekutholeni okubalulekile emkhakheni wocwaningo lukaParkinson.
Ukuhlola i-Genetics yisinqumo somuntu siqu kodwa isaziso sokuxwayisa: noma kunini lapho ukuhlolwa kofuzo kubhekwa khona, ikakhulukazi esimweni sesifo lapho kungekho ukuguqulwa kokwelashwa okusekelwe ekutholeni izakhi zofuzo, kungaba yiseluleko sami ukubona umeluleki wezakhi zofuzo ukuxoxa ngomthelela lolu lwazi luzoba nesiguli sakho, nomndeni wakho.
Izinkomba:
U-Beck, uJames, Ph.D. "Insights ye-Parkinson: Ukuvivinya nge-Genetic nawe." I-Parkinson's Insights: Ukuvivinya I-Genetic nawe . I-Parkinson's Disease Foundation (PDF), 26 Mar. 2013. Iwebhu. 29 Mashi 2014. http://parkinsonsdiseasefoundation.blogspot.ca/2013/03/genetic-testing-and-you.html
Farrer, Matthew, MD. "Izakhi zofuzo: I-Foundation for the Future Parkinson's Treatments." - I-Parkinson's Disease Foundation (PDF) . I-Parkinson's Disease Foundation, Winter 2012. Iwebhu. 29 Mashi 2014. http://www.pdf.org/winter12_genetics
U-Puschmann, u-Andreas. "I-Genetics of Parkinson." I-Genetics ye-Parkinson . I-European Parkinson's Disease Association, iWeb. 29 Mashi 2014. http://www.epda.eu.com/en/parkinsons/life-with-parkinsons/part-3/genetics-of-parkinsons