A Neurodegenerative Disorder
MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, uye stroke) chirwere chinoramba chichiwedzera neurodegenerative chinokonzerwa nekuchinja kwemuviri DNA mitochondrial. Mitochondria ndiwo masangano mukati memasero edu ayo anonyanya kukonzera kugadzira simba iro masero anoda kuita basa ravo. Mitochondria ine DNA yavo, iyo inogara ichigara nhaka kubva kuna amai.
Zvisinei, chirwere cheMELAS kazhinji hachina kutora nhaka; kuchinja kwechirwere ichi kazhinji kunowanzoitika.
Nemhaka yokuti chirwere chacho hachizivikanwe uye chinogona kuva chakaoma kuongorora, hachisati chazivikanwa kuti vangani vakagadzira MELAS munyika yose. Chirwere chinokanganisa marudzi ose emadzinza uye varume nevakadzi.
Vanhu vane njodzi vanowanzotanga kuratidza zviratidzo pakati pemakore mana ne40. chirwere chacho kazhinji chinouraya. Hakuna mushonga weMELAS syndrome; kurapwa kwechiremba kunonyanya kutsigira.
Zviratidzo
Nemhaka yokuti yakaremara mitochondria iripo mumasero ose evarwere vane MELAS syndrome, zviratidzo zvakawanda zvinogona kuitika, izvo zvinowanzoodzadza. Kurohwa kunokonzera kukuvadza kwehuropi, zvichikonzera kugunun'una , kushaya simba, kana kupora zvishoma. Incephalopathy (utachiona hwehupfungwa) inokonzera kudengenyeka, kusvibiswa kwemisimba, kupofu, kushaya matsi, uye kunogona kukonzera kuora mwoyo. Myopathy (chirwere chemusimba) chinokonzera kuoma kufamba, kufamba, kudya, uye kutaura.
Kuziva
Muvanhu vakawanda vane MELAS syndrome, chirwere chepuroke, kana zviratidzo zvakadai sepfungwa, kurutsira, kana kukanganisa, ndiyo inotanga kuziva kuti chimwe chinhu chakashata. Chirwere chekutanga chechiitiko chinowanzoitika muhucheche pakati pezera remakore mana nemakore gumi nemashanu, asi rinogona kuitika mucheche kana kune vechidiki.
Usati wapera chirwere, mwana anogona kunonoka kukura uye kukura, ave nekurema kwekudzidza kana kucherechedza dambudziko rekushungurudzika.
Miedzo inogona kutarisa mazinga e lactic acid muropa uye cerebrospinal fluid . Kuongorora ropa kunogona kutarisa enzyme (creatine kinase) inowanikwa mumaronda emusumbu. Sampuro yemusumbu (biopsy) inokwanisa kuongororwa kune yakawanda inowanikwa maitiro eMELAS. Dzidziso yekufungidzira kwebongo, yakafanana nekambani tomography (CT scan) kana magnetic resonance imaging (MRI), inogona kutarisa zviratidzo zvekuora kwehupombwe kubva pakurohwa.
Kurapa
Zvinosuruvarisa, hapasati kuripo kurapa kukanganisa kukanganisa kwakaitwa neMELAS syndrome, uye mugumisiro kune munhu ane chirwere chinowanzoshata. Kudzidzisa maitiro ekuenzanisa kunogona kubatsira kunatsiridza kutsungirira kwevanhu vane myopathy. Mishonga yemetabolic, kusanganisira kudya kwezvokudya, yakaratidza kubatsira kune vamwe vanhu. Izvi zvinosanganisira coenzyme Q10, phylloquinone, menadione, ascorbate, riboflavin, nicotinamide, creatine monohydrate, idebenone, succinate, uye dichloroacetate. Pasinei nokuti izvi zvinotsigira zvichabatsira vanhu vose neMELAS syndrome vachiri kudzidza.
Sources:
Scaglia, F. (2002). MELAS syndrome. eMedicine.
Kaufmann P, Engelstad K, Wei Y, et al. Nhoroondo yezveMELAS inobatanidza DNA mitochondrial m.3243A> G genotype. Neurology 2011; 77: 1965.