Mitochondria inofadza zvinyorwa zvitsuwa zvinogara mukati memasero ose mumuviri wedu. Kusiyana nedzimwe nhengo dzekamuri, mitochondria inenge iri sero rega. Ichokwadi, iyo inenge iine zvipenyu zvakasiyana zvakasiyana-siyana, zvine mazita ezvisikwa zvakasiyana zvachose nemumwe muviri wose. Semuenzaniso, isu tinowanzobvuma kuti tinowana nhaka yehafu yemagetsi edu kubva kuna amai vedu nehafu kubva kuna baba vedu.
Izvi hazvisi zvechokwadi. DNA yeMitochondrial inoparadzanisa nenzira yakasiyana uye yakagadzirirwa zvakakwana kubva kuna amai.
Masayendisiti mazhinji anotenda kuti mitochondria ndiyo muenzaniso wehurefu hwechirongwa chechimbiro, umo mabhakitiriya akare kare akabatanidzwa nemasero edu kuitira kuti masero edu ese uye mabhakitiriya ave akazvimirirana. Tinoda mitochondria kuitira kuti tishandise masimba akawanda masero edu aifanira kurarama. Iyo oksijeni yatinofema inotengesa nzira inenge isingakwanisi kunze kweiyo nhengo duku.
Sezvinonakidza sezvinoita mitochondria, zvinogona kukuvara sezvinongoita imwe chikamu chemuviri wedu. Nhaka dzakagadzirirwa muDNA mitochondrial dzinogona kutungamirira kune zviratidzo zvakawanda zvakasiyana-siyana. Izvi zvinogona kutungamirira ku syndromes imwe yaifungidzirwa kuva isina kujairika uye isingawanzoitiki, asi iko zvino inowanikwa seyakakurumbira kupfuura yaimbofunga. Rimwe boka muNorth West England rakawana kuwandisa kune vanenge 1 muvanhu 15 200.
Nhamba huru, inenge 1 muna 200, yakachinja, asi kuchinja kwacho kwakanga kusiri chiratidzo.
Nenzira yeutye inotsigira zvikuru pamusoro pemhepo yakakosha kuitira kuti iite basa rayo, uye izvozvo zvinoreva kuti mitsipa yedu inoda mitochondria kuti iite zvakanaka. Apo mitochondria inokanganisa, chirwere chetsitsi kazhinji chinotanga kutambura.
Zviratidzo zveMitochondrial Disease
Chiratidzo chakakurumbira chinokonzerwa nechirwere chemitochondrial chiyeuchidzo, chinoreva chirwere chemasuru.
Zvimwe zvinogona zviratidzo zvinosanganisira matambudziko ekuona, matambudziko ekufunga, kana kusanganiswa kwezviratidzo. Zviratidzo zvinowanzosanganiswa pamwe chete kuti zvive imwe yezvinyorwa zvakasiyana siyana zve syndromes.
Kuramba Kubudirira Kunze kweOphthalmoplegia (CPEO) - muCPEO, maziso emeso anenge achioma mutezo. Izvi zvinowanzoitika apo vanhu vari mumakore avo makumi matatu, asi vanogona kuitika chero ipi zvayo. Chiono chechipiri hachiwanzoviki, asi mamwe matambudziko anooneka anogona kuwanikwa nekuongorora kwechiremba. Mamwe maitiro, kunyanya kana akawanikwa mumhuri, anoteverwa nezvinetso zvekunzwa, kutaura kana kumira zvinetso, neuropathies , kana kuora mwoyo.
Kearns-Sayre syndrome - Kearns-Sayre syndrome inenge yakangofanana neCPEO, asi ine zvimwe zvinetso uye imwe yepakutanga yekutanga. Matambudziko anowanzotanga kana vanhu vari pasi pemakore makumi maviri. Dzimwe zvinetso zvinosanganisira pigmentary retinopathy, cerebellar ataxia , matambudziko emwoyo uye kukanganisa kwepfungwa. Kearns-Sayre syndrome inotyisa kupfuura CPEO, uye inogona kutungamirira kurufu nemakore gumi ehupenyu.
Leber Hereditary Optic Neuropathy (LHON) - LHON inowanikwa nhaka yekuona kurasikirwa kunokonzera upofu mumajaya.
Leigh Syndrome - Iyo inozivikanwa seyo subacute necrotizing encephalometepathy, Leigh syndrome inowanzoitika muvana vaduku zvikuru. chirwere chacho chinokonzera ataxia, kugumburwa , kushaya simba, kukurumidza kusimbiswa, dystonia , nezvimwewo. Magnetic resonance imaging (MRI) yeuropi inoratidza chiratidzo chisingaoneki muboka rechechi. Chirwere ichi chinowanzouraya mukati memwedzi.
Mitochondrial encephalopathy ne lactic acidosis uye stroke-sezvikamu (MELAS) - MELAS ndeimwe yemhando dzakawanda dzezvirwere zvemitochondrial. Inhaka kubva kuna amai. Chirwere chinokonzera zvikamu zvakafanana nekurova, izvo zvinogona kuita kuti utera kana kuti kurasikirwa kurasike. Zvimwe zviratidzo zvinosanganisira kugunun'una, migraine, kurutsa, kunzwa kurasikirwa, kushaya simba kwemusimba, uye nguva shoma. Dambudziko racho rinowanzotanga muhuduku uye hunoenderera mberi kuchinetseka. Inogona kuongororwa nehupamhi hwemalactic acid muropa pamwe chete ne "chidimbu chine tsvuku tsvuku" chitarisiko chemusimba pasi pe microscope.
Mheclonic epilepsy nemabhuru tsvuku tsvuku (MERRF) - Myoclonus inonyanya kumira mushure, yakafanana nezvakawanda vati tati tarara. Iyo myoclonus muMERRF inowanzoitika uye inoteverwa nekutambuka, ataxia, uye musimba utera. Matsi, zviratidzo zvekuona, chirwere chepfungwa neuropathy, uye dementia zvinogonawo kuitika.
Madzimai akazvarwa nhaka yekutema uye chirwere cheshuga (MIDD) - Ichi chinetso chemitochondrial chinowanzokonzera vanhu pakati pemakore makumi matatu nemakumi mana emakore. Mukuwedzera kune kurasikirwa kwekunzwa uye chirwere cheshuga, vanhu vane MIDD vanogona kuona kurasikirwa, kushaya simba kwepfungwa, matambudziko emwoyo, zvirwere zvepfungwa, chirwere chepachiviri, uye chirfupi.
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) - Izvi zvinokonzera kusagadzikana kwakanyanya mumatumbo, izvo zvinogona kutungamirira kumatambudziko ekudzivirira uye kuvimbiswa. Zvinetso nekutarisa kwemaziso zvinowanzoonekwawo, sezvinonzi neuropathies uye nyeupe nyaya inochinja muuropi. Dambudziko racho rinouya pane chero kupi zvako kubva paudiki kusvikira kune makumi mashanu asi rinonyanya kuwanikwa muvana.
Neuropathy, ataxia uye retinitis pigmentosa (NARP) - Pamusoro pematambudziko emhirizhonga uye kushungurudzika, NARP inogona kukonzera kukurumidza kufambira mberi, kuora mwoyo, kushaya simba, uye kuora mwoyo.
Zvimwe zvinetso zvemitochondrial zvinosanganisira Pearson syndrome (sideroblastic anemia uye pancreatic dysfunction), Barth syndrome (X-inogadziriswa nehupenyu, mitochondrial myopathy, uye cyclic neutropenia), uye kukurumidza kukurumidza, amino aciduria, cholestasis, iron overload, lactic acidosis, uye kufa kwekutanga (GRACILE ).
Kuongorora zvirwere zveMitochondrial
Nemhaka yokuti chirwere chemitochondrial chinogona kukonzera ruzhinji rwezviratidzo zvezviratidzo, zvinetso izvi zvinogona kuva zvakaoma kunyange kune vanachiremba vakadzidziswa kuti vaone. Mamiriro ezvinhu asina kujairika apo zviratidzo zvose zvinoratidzika sezvakanyorwa zvechirwere chinokonzera, zvirwere zvekuberekwa zvinogona kuitwa kuti zviratidze hutachiona. Kana zvisina kudaro, dzimwe mimwe miedzo inogona kudiwa.
Mitochondria inokonzera aerobic metabolism, iyo yakawanda yedu inoshandisa zuva nezuva kuitira kuti tifambe. Apo aerobic metabolism inopera, sezvakaita mukuvhima kwakasimba, muviri unoshandisa nzira yekuchengetedza inoguma mukuvaka-up kwe lactic acid. Ichi ndicho chinhu chinoita kuti mishonga yedu ishe uye inopisa patinenge tanyanya kuvhiringidza. Nokuti vanhu vane chirwere chemitochondrial vane simba shoma rekushandisa maitiro avo eerobic metabolism, lactic acid inovaka, uye izvi zvinogona kuyerwa uye kushandiswa sechiratidzo chokuti chimwe chinhu chakaipa nemitochondria. Zvimwe zvinhu zvinogona kuwedzera ruzivo zvakare, zvakadaro. Semuenzaniso, lactic acid mu cerebrospinal fluid inogona kukwidziridzwa mushure mekukuvara kana kurohwa. Uyezve, mamwe marudzi echirwere chemitochondrial, saLeigh syndrome, kazhinji ane maruva ectate ari mumiganhu yakakwana.
Chimwe chekuongorora chinogona kusanganisira lactate mazinga mu plasma uye cerebrospinal fluid. Electrocardiograms inogona kuongorora zvirongwa, izvo zvinogona kuuraya. A magnetic resonance image (MRI) inogona kutarisa nyaya yemavara machena . Electromyography inogona kushandiswa kuongororwa nehutachiona hwehutachiona. Kana pane kunetseka kwekugumburwa, electroencephalography inogona kurairwa. Zvichienderana nezviratidzo, kunzwa kwemazwi evanhu kana ophthalmology inogona kukurudzirwawo.
Tsvina yenyuchi ndeimwe yenzira dzakavimbika dzekuongorora mitochondrial disorders. Zvizhinji zvezvirwere zvemitochondrial zvinouya ne myopathy, dzimwe nguva kunyange kana pasina zviratidzo zvakajeka semusana urombo kana utera.
Mishonga muMitochondrial Diseases
Panguva ino, hapana chirongwa chinogadziriswa chemitochondrial matenda. Chinonyanya kukosha pakuchengeta zviratidzo sezvavanomuka. Zvisinei, kuongororwa kwakanaka kunogona kubatsira kugadzirira zvichaitika mune ramangwana, uye munyaya yehutano hwakaberekwa, inogona kukanganisa urongwa hwemhuri.
Summary
Muchidimbu, chirwere chemitochondrial chinofanira kunge chichifungidzirwa kana pane kusanganiswa kwezviratidzo zvinosanganisira moyo wemasumbu, uropi, kana maziso. Kunyange zvazvo dambudziko rekuberekwa kwevana vanoita zvekare, zvinokwanisika uye zvinowanzoonekwa kuti chirwere chemitochondrial chinokonzerwa nekuchinja kwezvinhu zvenyukireya DNA, nekuda kwekubatana pakati pezvakaberekwa zvemukati uye mitochondria. Uyezve, dzimwe zvirwere zvinoparadzaniswa, zvinoreva kuti zvinoitika kwekutanga kokutanga pasina kupiwa nhaka zvachose. Zvirwere zveMitochondrial zvichiri zvisinganzwisisiki uye zvinonyatsotarisirwa nenyanzvi ine kunzwisisa kwakasimba kwechidzidzo chechirwere chepfungwa.
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