Chekutanga Tunisia chidzidzo chekuongorora zera rekutanga kwebiallelic mutations muchirwere chaHuntington

COPENHAGEN, DENMARK - Chidzidzo chekutanga cherudzi rwayo chakaburitswa nhasi paInternational Congress yeParkinson's Disease uye Movement Disorders® muCopenhagen, Denmark. Ichi chidzidzo cheTunisian cohort chakashuma kuti zera rechirwere chinotanga kune varwere vane homozygous mutation muHuntingtin gene (HTT) haina kusiyana zvakanyanya kubva kune yevarwere veheterozygous.  

Chirwere cheHuntington (HD) is autosomal dominant neurodegenerative disorder iyo inokonzerwa nekuwedzera kweCAG muHTT. Homozygosity muHD haiwanzo; saka, makiriniki ayo uye mamorekuru maitiro haanzwisisike kana achienzaniswa neaya evarwere veheterozygous.  

Iyo genetic uye yemhuri nhoroondo ye180 Tunisian HD varwere, vashanu homozygous, vakaongororwa. Zera rechirwere chinotanga pakati pehomozygous uye heterozygous varwere harina kusiyana zvakanyanya. Varwere vane kuwedzera kukuru kwealele vaibatanidzwa nezera rekutanga rekutanga, makore makumi matatu ehomozygous uye makore 30 eheterozygous. Varwere vane zviduku vose vaibatanidzwa nezera rekupedzisira rekutanga, makore 33 ehomozygous uye makore 62 eheterozygous. Nhamba yeCAG inodzokorora uye zera rekutanga kwechirwere yakaratidzwa kuva inversely correlated kune homozygous varwere.  

"Chirwere cheHuntington chirwere chisingawanzoitiki chiripo pasi rose," akadaro Prof. Joaquim Ferreira MD, PhD, University of Lisbon. "Zvisinei, kuwana genetic diagnostic tests hakuwanikwe munzvimbo dzakawanda dzepasi, kusanganisira nyika zhinji dzemuAfrica. Ongororo iyi yakaitwa muhuwandu hwevarwere veTunisia inotiyeuchidza kwete chete nezvekudikanwa kwekuita ongororo yekuongorora ma genetic kuwanikwa kwese kwese, asiwo nezvekubatsira kwenyika idzi kukwanisa kupa ruzivo rwakakosha mune zvesainzi. the mutated huntingtin uye hosha phenomenology.” 

Mashoko akazara echinyorwa ichi achawanikwa pa mdsabstracts.org (Reference #909) mushure mekunge embargo yasimudza Nyamavhuvhu 27, 2023, 08:00 CEST. 
 

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Nezve 2023 MDS International Congress yeParkinson's Disease uye Movement Disorders®:  
MDS International Congress ndiyo yekutanga chiitiko chegore negore kusimudzira chirango chekiriniki nesainzi cheMovement Disorders, kusanganisira chirwere cheParkinson. Kuunganidza zviuru zvevarapi vanotungamira, masayendisiti uye vamwe nyanzvi dzehutano kubva pasirese, International Congress ichaunza zvinopfuura chiuru nemazana masere ezvinyorwa zvesainzi uye nekupa foramu yedzidzo nekubatana pane zvichangoburwa tsvagiridzo uye nzira dzemazuva ano dzekurapa. 

Nezve International Parkinson uye Movement Disorder Society: 
The International Parkinson uye Movement Disorder Society® (MDS), nzanga yepasi rose yevanopfuura 11,000 varapi, masayendisiti, uye vamwe vashandi vehutano hwehutano, yakatsaurirwa kuvandudza kuchengetwa kwevarwere kuburikidza nedzidzo uye tsvakurudzo. Kuti uwane rumwe ruzivo nezve MDS, shanya www.movementdisorders.org.