Ukuhlolwa kwe-Genetics kwisifo sikaParkinson kunokudlala indima ebalulekileyo ekuxilongweni
Uvavanyo lwe-Genetic kwisifo sikaParkinson lunokudlala indima ebalulekileyo ekufumaneni ukugula. Izazinzulu zithemba ukuba ulwazi olunikezwa yi-genetics luya kunceda lube lula okanye luyeke ukuqhubeka kwalo.
Izidalwa zeGenesis zithathwa kwi-DNA yethu, iiyunithi zelifa ezichonga iimpawu ezigqithisiweyo ukusuka kumzali ukuya kumntwana. Sizuze iilidi eziyi-3 zezigidi zeengqikithi ezivela koomama noobawo.
Bayibeka umbala wamehlo ethu, ukuba side kangakanani kwaye, kwezinye iimeko, ingozi esinayo ekuphuhliseni izifo ezithile.
Njengogqirha, ndiyazi indima ebonakalayo ekuzaleni impilo yethu. Isigulane sempembelelo ukuba iinjenge zethu zentsholongwane ziyahlukahluka kuxhomekeke kwisifo, kodwa izinto zombini kunye nezofuzo zinegalelo ekuphuhliseni ukugula ngandlela-thile.
Ukuhlolwa kweGenestics kwiiNgxaki zePasinson
Kwisifo sikaPasinson, ininzi yamatyala yinto esiyibiza ngokuba yimpumelelo ngaphandle kwesizathu esibonakalayo. Amatyala "angenabomi" athetha ukuba akukho nanye amalungu entsapho aphethe i-Parkinson. Nangona kunjalo, malunga neepesenti ezili-14 zabantu abachaphazelekayo ne-Parkinson banesihlobo sokuqala (umzali, umntakwabo okanye umntwana) ohlala esi sifo. Kule meko yeentsapho, iigciwane eziguqulwayo ezibangela ukuba esi sifo singathathwa njengefa elihle okanye lilolu hlobo.
Izizalwane ezininzi ezichaphazelekayo kwizizukulwana ezahlukahlukeneyo zifumaneka rhoqo kwiintsapho ezinomdla wokuguqula i-Parkinson. Umzekelo walolu hlobo lwelifa yi-SNCA yokuguqula izityalo eziphumela ekuvelweni kweprotheni ebizwa ngokuthi i-alpha-synuclein. Le prothini yenza imizimba yeLewy efumaneka kwiibongo zabantu abaneParkinson.
Ezinye izitshintsho - LRRK2, VPS35, kunye ne-EIF4G1 - nazo zizuzwe njengefa.
Ngokwahlukileyo, ukuguqulwa kweengxaki ezithintekayo ezisebenza njengengozi yokuphuhliswa kwesifo sikaParkinson zimelelwe ngamacala kwisizukulwana esinye njengabantwana bakowenu. Iinguqu zezofuzo ze-PARKIN, PINK1, ne-DJ1 zegeni ziyimimiselo yolu hlobo lwelifa.
Le ngenye yenguqu eyaziwayo kodwa kukho ezinye ezithe zafunyanwa ngokuqhubekayo. Kodwa ke, khumbula, ukuba ezininzi iifom zezofuzo zineqondo eliphantsi lokuthetha okanye ukungena emntwini, oko kuthetha ukuba ngenxa yokuba unayo igeni akuthethi ukuba uya kufumana i-Parkinson. Nangona kwimeko ye-LRRK2 yintshintsho, ephezulu kwimvelo, ubukho be-gene abufani nokuphuhliswa kwesi sifo.
Xa Kufuneka Ukuhlolwa Kwezityalo Zase-Parkinson?
Ugqirha wakho unokubonisa ukuba ukuxilongwa kwe-Parkinson yakho kufikelele kumncinci (ungaphantsi kweminyaka engama-40 ubudala), ukuba izihlobo ezininzi kwimbali yakho yentsapho ziye zafunyaniswa ukuba zinye, okanye ukuba usengozini enkulu yohlobo lwe-Parkinson olusekelwe ubuhlanga (abo baseAshkenazi bamaYuda okanye iMveli yaseNyakatho-Afrika).
Nangona kunjalo, yintoni inzuzo yokuba nokuvavanywa okwenziwe kwangoku?
Ingcaciso ingaba ibalulekileyo ekucwangciseni iintsapho kwabanye abantu nangona ndathi nangona i-gene iguqulwa kuyo ayilingani ukuphuhliswa kwesi sifo. Umngcipheko, kodwa unobungozi obuphezulu kwizinto eziphilayo eziguquka ngokubhekiselele kumagqabantshintshi, ngokuqhelekileyo ukuba umntu unesihlobo sokuqala se-Parkinson (umzekelo okanye umzali okanye umntakwabo) umngcipheko wokuphuhliswa kwesifo ngu-4 ukuya kwe-9 kweepesenti ngaphezulu luluntu jikelele.
Hlalani nikhumbule ukuba okwangoku umntu ovavanywayo, akukho tshintsho kwonyango sesifo sabo se-Parkinson esekelwe kwiziphumo zofuzo. Kwixesha elizayo, nangona kunjalo, xa kukho unyango lokunciphisa ukuqala kwesifo okanye ukukhusela ekuphuhlisweni kwayo yonke into, ukuchonga kwabo bantu basengozini kuya kubaluleka kakhulu.
Uvavanyo lwe-Genetics noPhando lwe-Parkinson
Nangona kungenakho inzuzo ngokuthe ngqo kuwe ngeli xesha, iziphumo zokuvavanya i-genetic zingancedisa uphando olongezelelweyo lukaParkinson ngokuvumela abaososayensi ukuba baqonde kangcono isifo kwaye ngenxa yoko bavelise unyango olutsha. Ngokomzekelo, ukuguqulwa kwimizimba ebonisa ukuba iprotein ye-alpha-synuclein (i-SNCA) ibangela uhlobo oluthile lwesifo se-Parkinson. Nangona oku kuguquka kuphela kubangele ipesenti yamatyala, ulwazi lwolu tshintsho luye lwaba nemiphumo ebanzi. Ukufundwa kwezi zigulo zemizimba kukhokelela ekufumaneni ukuba i-alpha-synuclein idibanisa kunye nokwenza imizimba yaseLeby eye yafunyanwa rhoqo kwiibongo zabo bonke abantu abanesifo sikaPasinson kungekhona nje labo abanokuguqulwa kwe-SNCA. Ngaloo ndlela, ukuguquka komzimba omnye kuye kwabangela ukufumanisa okubalulekileyo kwintsimi yophando lukaParkinson.
Ukuvavanya i-Genetics yisigqibo somntu siqu kodwa isilumkiso: naliphi na ixesha ukuba ukuhlolwa kofuzo kuthathwa ingqalelo, ngokukodwa kwisifo sesifo apho kungekho tshintsho kunyango olusekelwe kwiziphumo zofuzo, kuya kuba sisicetyhulo sam ukuba sibone umcebisi wezofuzo ukuxubusha impembelelo olu lwazi luya kuba nesigulane, kunye nosapho lwakho.
Iingxelo:
Beck, James, Ph.D. "I-Parkinson's Insights: Uvavanyo lwezofuzo kunye nawe." I-Parkinson's Insights: Uvavanyo lwezofuzo kunye nawe . I-Parkinson's Disease Foundation (PDF), 26 kuMatshi 2013. IWebhu. 29 kuMatshi 2014. http://parkinsonsdiseasefoundation.blogspot.ca/2013/03/genetic-testing-and-you.html
Farrer, Matthew, MD. "I-Genetics: Isiseko seZonyango ze-Future Parkinson." - I-Parkinson's Disease Foundation (PDF) . I-Parkinson's Disease Foundation, ngo-2012. 29 kuMatshi 2014. http://www.pdf.org/winter12_genetics
UPuschmann, u-Andreas. "I-Genetics ye-Parkinson." Genetics of Parkinson . I-European Parkinson's Disease Association, iWeb. 29 kuMatshi 2014. http://www.epda.eu.com/en/parkinsons/life-with-parkinsons/part-3/genetics-of-parkinsons