Indima ye-Genetics ayifuni ngokuphelele emndenini ethintekile
I-Genetics cishe inendima kuzo zonke izinhlobo zesifo sika-Parkinson . Kodwa-ke, ngenkathi inhlanganisela ethize yezakhi zofuzo ingakwandisa ingozi yesifo, akusho ukuthi uzothola.
Abantu abangamaphesenti angu-15 kuya ku-25 abantu abahlala neParkinson banomlando womndeni wesimo, kungaba ubuhlobo obuseduze noma obuphakathi kwesibili.
Ukuba nesisodwa noma ngaphezulu kwezi zihlobo kuzokubeka engozini ephakeme kakhulu ye-Parkinson, kodwa akusikho isiqinisekiso sokuthi uzokuthuthukisa le disorder.
Ngakolunye uhlangothi, uma unama-Parkinson, akufanele ukuphakamisa ukuthi noma iyiphi yezingane zakho noma abazukulu bazozithola lesi sifo. Ibonisa nje ukuthi ingozi yabo ingaphezu kwalabo abangenalo umlando womndeni.
Ekugcineni, izimo eziningi zikaParkinson azikho isizathu esaziwayo (esibhekisela kuso ngokuthi sinesifo se-idiopathic noma sifo). Ngenkathi kunezinhlobo ezibonakala zigijima emindenini, le akhawunti ngephesenti elincane lamacala - cishe amaphesenti amahlanu kuya kwangu-10, konke okushiwo.
Ukuguquka kweGenesis Okubalulekile Okuhlanganiswa Ne-Parkinson
Kunezinhlobo ze-Parkinson ezibonakala zithonywa ukukhubazeka kwezakhi zofuzo ezisebenza emindenini. Sivame ukukubona lokhu ngezinhlobo zokuqala zesifo lapho izibonakaliso zizovela khona kunesikhathi sokuqala esivela eminyakeni engu-60 .
Uhlobo olulodwa lokuguquka kwezakhi zofuzo oluhlobene ne-parkinsonism yomndeni lisegameni okuthiwa yi- SNCA . Lesi isakhi esihlobene nokukhiqizwa kwe-alpha-synuclein amaprotheni, i-biomolecule engabangela ukungajwayelekile emangqamuzaneni omzimba. Nakuba kungavamile kubantu abaningi, ukuguquguquka kwegciwane le-SNCA kuye kwabonakala kumaphesenti angu-2 emindeni ethintekile yiPasinson.
Ngo-2004, ososayensi bathola ukuguquguquka kwezakhi zofuzo ezifanayo emindenini eminingi lapho amalungu amaningi ayebhekene nawo. Ukuthi ukuguqulwa kwe-LRRK2 okuthiwa namuhla kuxhumene namaphesenti angu-2 kuya kwangu-2 kuwo wonke ama-Parkinson amacala, okuthinta kakhulu abantu bamaJuda, ama-Ashkenazi, iNorth African Arab-Berber, noma imvelaphi yaseBasque.
Enye inguquko ehilela isakhi sofuzo se-GBA isivele saziwa ngokubangela isifo se-Gaucher (isifo esiyingqayizivele esibonakala ngokulimaza, ukukhathala, i-anemia, nokwandiswa kwesibindi nesipere). Ucwaningo luye lwabonisa ukuthi ukuguquguquka kwe-GBA kukhona kunani labantu abano-Parkinson, okuphakamisa isixhumanisi se-causal phakathi kokuguqulwa kwesifo nesifo.
I-Genetics kanye Nezici Zemvelo
Izimo zemvelo nazo zenza kakhulu ekuthuthukiseni kukaParkinson futhi kungenzeka, kwezinye izimo, zisebenze ngokulandelana ngezakhi zofuzo zenze lesi sifo . Ucwaningo olwenziwa ngo-2004 lwalubonisa ukuthi abantu ababenokuguqulwa kwegciwane le- CYP2D6 futhi babethelwe ezibulala izibulala-zinambuzane babevame ukwakhiwa kukaParkinson kabili.
Ngokwabo, izibulala-zinambuzane, izinsimbi, izixazululo nezinye izidakamizwa ziye zahlanganiswa ngokungaxhunyiwe ku-Parkinson. Kodwa okuthakazelisayo ukuthi labo ababenokuguqulwa kwe-CYB2D6 futhi abazange bavezwe ezibulala izibulala-zinambuzane abatholakalanga ukuthi babekho engozini enkulu yokuthuthukisa lesi sifo.
Izwi elivela
Nakuba kungase kube khona inzuzo ngokuqondile kuwe okwamanje, imiphumela yokuhlolwa kofuzo ingasiza olunye uphenyo lukaParkinson ngokuvumela ososayensi baqonde kangcono lesi sifo futhi bathuthukise ukwelashwa okusha. Nakuba ukukhetha ukuhlola kungumuntu oyedwa, kungase kuzuze uma amalungu omndeni amaningi ethintekile noma uma usengozini enkulu ngokusekelwe ebuzweni bakho.
Imithombo:
> Lesage, S. kanye noBrice, A. "Isifo sikaParkinson: kusuka emafenjini angama-monogenic kuya kwizizathu zokuthola izakhi zofuzo.". I-Human Molecular Genetics . 2009; 18 (R1): R48-59.
> Stewart, A .; I-Factor, D .; UWilliam J. et al. Izifo zikaPasinson: Ukuxilongwa Nokuphathwa Kwemitholampilo (uhlelo lwesibili). I-New York: Ukushicilelwa Kwezidakamizwa ze-Demos; 2008; I-ISBN-10: 1933864001.