VHURUMENDE 30, NYAYA 1 • Kurume 2026. Nyaya yakazara »
RAB32-chinobatanidza chirwere cheParkinson: Kuverenga zvakadzama, ongororo yemabhuku eMDSGene, uye kushandiswa kwezvinodiwa zveSynNeurGe
Kuwanikwa kwemhando ye p.Ser71Arg inouraya utachiona mumasero emuviri RAB32 Gene inomiririra rudzi rutsva rwechirwere cheParkinson (PD) chinonzi monogenic. Pakushanda kwayo, shanduko iyi inotungamira mukuwedzerwa kweLRRK2, nzira inogovaniswa neimwe gene yePD inonzi monogenic, nokudaro ichibatanidza PARK-RAB32 kune nzira inozivikanwa yemamorekuru ine chekuita nechirwere.
Basa redu rinosanganisa ongororo yakarongeka yemabhuku eMDSGene nekuongorora kwakadzama kwekiriniki uye kwehupenyu kwevarwere gumi nerimwe uye munhu mumwe chete weprodromal ane PARK-RAB32, zvichipa humbowo hwakakwana hwechimiro ichi chemajini kusvika pari zvino.
Pavanhu vanosvika 83 (kusanganisira varwere 72 vakambotaurwa nezvavo), PARK-RAB32 Zvinoonekwa sechirwere cheParkinsonism chinowanzoonekwa muchipatara uye mhinduro yakanaka pakurapwa nedopaminergic. Avhareji yezera rekutanga raive makore makumi mashanu nemana (IQR 46-61), nemakore akasiyana-siyana kubva pa31 kusvika ku82, nepo 26% yevarwere vakataura nhoroondo yemhuri isina kunaka, zvichiratidza kuchinja kwezviratidzo uye kudzikira kwekupinda kweropa.
Vanhu vane hunhu hwemajini vaive nerudzi rumwe chete rwemuvambi wemhando ye haplotype, kunyanya kubva kumadzitateguru (ekumaodzanyemba) kweEurope kana kuNorth Africa.
Mukati meboka revanhu vakanyanya kurwara, kuomarara kwechirwere panguva yepakati yechirwere chemakore gumi nerimwe kwakaratidzwa neavhareji yeMDS-UPDRS III mamakisi e38.5 ± 21.8 points. Zvakakosha kuti chidzidzo ichi chinoratidza mutoro wakakura wezviratidzo zvisiri zvemuviri kuburikidza nekuongororwa kwakanangana, zvichisimbisa kukosha kwekuongorora kwakarongeka. Kusashanda zvakanaka kwemuviri kwaivepo muvarwere vese; hyposmia mu10/11; kushungurudzika mu8/11; uye matambudziko ekurara muvanhu 10/11.
Kukanganisika kwepfungwa kwakakanganisa chikamu chimwe muzvitatu chezvese zvakashumwa zvePARK-RAB32 varwere (avhareji mamakisi eMoCA: mapoinzi 23.2), chiyero chakafanana neicho chakaonekwa mune mamwe majini ePD anotonga autosomal.
Panyaya yezvehupenyu, chidzidzo ichi chinopa humbowo hwekutanga hwe α-synuclein pathology isina kurongeka muPARK-RAB32 kuburikidza nekuyedza mbeu yekuwedzera simba muuropi (cerebrospinal fluid-based seed amplification assays (SAA), iyo yaive yakanaka muvarwere vaviri vePD vaviri asi isina kunaka mumunhu weprodromal asina hyposmia. Pamwe chete nekufungidzira kweDaTSCAN kusingawanzoitiki (kunowanikwa kuvarwere vanomwe) uye kuvapo kwemhando yemajini inotapukira, PARK-RAB32 inogona kurongwa zvichienderana nezvinodiwa zveSynNeurGe zvebhayoloji, seS+ (humbowo hwe synucleinopathy), N+ (kuburitswa kwetsinga dzeuropi zvichibva pamifananidzo), GP+ (kunyanya kufarirwa nemajini), uye C+ (mufananidzo wekiriniki unoenderana nePD).
Pamwe chete, zvakawanikwa izvi zvinoratidza PARK-RAB32 senzira yakajairika yePD mukurapa ine zera rakaderera pakutanga, zvinosimbisa kukosha kwekuongorora zvakadzama uye kushuma muPD ine monogenic, uye zvinogona kuvhura mukana wekurapa mune ramangwana reLRRK2-pathway-targeted therapy strategies.
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