Indima ye-Genetics ayifumanekanga ngokupheleleyo kwiintsapho ezichaphazelekayo
I-Genetics inokudlala indima kuzo zonke iintlobo zesifo se- Parkinson . Nangona kunjalo, ngelixa udibaniso oluthile lwe-genetics lunokunyusa umngcipheko wakho wesifo, akuthethi ukuba uya kufumana.
Amaphesenti ama-15 ukuya kuma-25 ekhulwini labantu abahlala neParkinson baneenkcukacha zentsapho kwimeko, nokuba ngaba ngabaxhomekeke kwangoko okanye ngesibini.
Ukuba neyodwa okanye ezininzi kwezi zalwane ziza kukubeka ingozi ephakamileyo ye-Parkinson, kodwa kusenaso isiqinisekiso sokuthi uza kuphuhlisa ingxaki.
Ngakolunye uhlangothi, ukuba unayo i-Parkinson, akufanele iphakamise ukuba nayiphi na abantwana bakho okanye abazukulwana bakho baya kufumana nesifo. Kubonisa nje ukuba umngcipheko wabo ungaphantsi kwalabo abangenayo imbali yentsapho.
Ekugqibeleni, amaninzi amatyala ka-Parkinson ayinaso isizathu esaziwayo (esibhekisela kuyo njengokuba sinesifo se-idiopathic okanye sisifo esincinci). Nangona kukho iifom ezibonakala ziqhutyelwe kwiintsapho, le akhawunti i-pesenti encinci yamatyala-malunga namahlanu ukuya kwi-10 ekhulwini, zonke zixelelwe.
Iinguqu eziphambili ze-Gene ezinxulumene neParkinson
Kukho iintlobo zeParkinson ezibonakala zichaphazelekayo ngenxa yeziphene eziphathekayo eziqhutywa kwiintsapho. Sivame ukubona oku ngeendlela zokuqala zesifo eso apho iimpawu ziza kubonakala kwangaphambili kunokuba zifikelele kwiminyaka eyi-60 .
Olunye uhlobo lokuguqulwa kofuzo oluhambelana ne-parkinsonism yamakhaya lubizwa ngokuba yi- SNCA gene . Lo ngumthwalo ophathelene nokuveliswa kweprotheni ye-alpha-synuclein, i-biomolecule enokubangela ukungaqhelekanga kwiiseli zamathambo. Ngelixa lingaqhelekanga kuluntu jikelele, ukuguqulwa kofuzo lwe-SNCA kuye kwafunyanwa kwiipesenti ezimbini zeentsapho ezichaphazelekayo yiParkinson.
Ngo-2004, izazinzulu zathola ukuguqulwa kofuzo olufanayo kwiintsapho ezininzi apho amalungu amaninzi aye achaphazelekayo. Ukuthi utshintsho olubizwa ngokuba yi- LRRK2 luxhunyaniswe nanamaphesenti angama-2 kuwo onke ama-Parkinson matyala, echaphazela abantu bamaYuda, ama-Ashkenazi, i-North-Arab Arab-Berber, okanye i-Basque.
Olunye utshintsho olubandakanya umthamo we-GBA sele luyaziwa ngokubangela isifo se-Gaucher (i-disorder inherited by stroke, tiredness, anemia, kunye nokwandiswa kwesibindi kunye ne-spleen). Uphando oluye lwabonakalisa ukuba ukuguqulwa kwe-GBA kukhoyo kwinani elikhulu labantu abane-Parkinson, ebonisa ukuba unxibelelwano lwe-causal phakathi kokuguqulwa kwesifo kunye nesifo.
IGenestics kunye neZendalo
Imiba engqongileyo nayo igalelo elikhulu ekuphuhliseni i-Parkinson kwaye kwaye, ngezinye iimeko, zisebenza ngokubambisana ne-genetics ukudala ingxaki . Uphando olwenziwa ngo-2004 lubonise ukuba abantu ababenokuguqulwa kwegciwane le- CYP2D6 kwaye babecala kwizityalo zepilisi zinokuphindwa kabili ukuba bakhulise iPacinson.
Ngokwabo, izibulala-zinambuzane, izitye, i-solvents, kunye nezinye iziyobisi zidibene ngokukhululekile kwi-Parkinson. Kodwa into enomdla kukuba abo babenokuguqulwa kwe-CYB2D6 kwaye babengabonakaliswa kwizibulala-zinambuzane abazange bafumaneke kunomngcipheko ophezulu wokuphuhliswa kwengxaki.
ILizwi
Nangona kungabikho nzuzo ngokuthe ngqo kuwe ngeli xesha, iziphumo zokuvavanya i-genetic zingancedisa uphando olungakumbi lwe-Parkinson ngokuvumela abaososayensi ukuba baqonde kakuhle isifo kwaye baphucule unyango olutsha. Nangona ukhetho lokuvavanya luyodwa, kuya kuba luncedo xa amalungu amaninzi entsapho echaphazelekile okanye ukuba usemngciphekweni ophezulu ngokusekelwe kobuhlanga bakho.
Imithombo:
> Lesage, S. kunye noBrice, A. "Isifo sikaParkinson: ukusuka kwiifom ze-monogenic kuya kwiimeko zokuthathwa kwemvelo.". Human Molecular Genetics . 2009; 18 (R1): R48-59.
> Stewart, A .; Factor, D .; UWilliam J. et al. Izifo zikaPasinson: Ukuxilonga kunye noLawulo lwezonyango (ukupapashwa kwe-2). ENew York: iDemos Publishing Medical; 2008; I-ISBN-10: 1933864001.