Mitochondria ke li-organelle tse nyenyane tse thahasellisang tse lulang hoo e batlang e le sele e 'ngoe le e' ngoe 'meleng oa rona. Ho fapana le likarolo tse ling tsa sele, mitochondria e batla e le seleng ea bona. Ha e le hantle, li batla li le likarolo tse fapaneng ka ho feletseng, tse nang le liphatsa tsa lefutso tse fapaneng ka ho feletseng le 'mele oohle. Ka mohlala, ka kakaretso rea lumela hore re fumana karolo ea halofo ea liphatsa tsa lefutso ho tloha ho 'mè le halofo ea ntate oa rona.
Sena hase nnete. DNA ea mitochondrial e arohane ka mokhoa o fapaneng 'me e futsitsoe hoo e ka bang ka ho feletseng ho' mè.
Bo-rasaense ba bangata ba lumela hore mitochondria ke mohlala oa kamano ea nako e telele ea lik'hemik'hale, moo likokoana-hloko li kileng tsa kopanngoa le lisele tsa rona e le hore lisele tsa rona le likokoana-hloko li itšetlehe ka e mong. Re hloka mitochondria e le hore re sebetse boholo ba lisele tsa rona tse hlokahalang ho phela. Oxyjene eo re e hemang e khanyetsa mokhoa o ke keng oa khoneha ntle le sethoana sena se senyenyane.
Ha e khahleha joaloka mitochondria, li ka 'na tsa senyeha joaloka karolo leha e le efe ea' mele ea rona. Liphetoho tsa lefutso tsa DNA ea mitochondrial li ka baka matšoao a sa tšoaneng a fapaneng. Sena se ka lebisa ho syndromes eo ho nahanoang hore e sa tloaelehang le e sa tloaelehang haholo, empa hona joale e nkoa e le e tloaelehileng ho feta kamoo ho neng ho nahanoa kateng pele. Sehlopha se karolong e ka leboea-bochabela ea Engelane se fumane hore sekhahla se ka ba 1 ho batho ba 15 200.
Nomoro e kholo, hoo e ka bang 1 ho 200, e ne e fetohile, empa liphetoho ha lia ka tsa tšoantšetsa maikutlo.
Ts'ebetso ea methapo e itšetlehile haholo ka oksijene e le hore e phethe mosebetsi, 'me seo se bolela hore methapo ea rona e hloka mitochondria hore e sebetse hantle. Ha mitochondria e sa tsamaee hantle, tsamaiso ea methapo ke eona ea pele ea ho utloa bohloko.
Matšoao a Mafu a Mitochondrial
Letšoao le tloaelehileng le bakoang ke lefu la mitochondrial ke myopathy, e bolelang lefu la mesifa.
Tse ling tse ka hlahang matšoao li akarelletsa mathata a pono, mathata a ho nahana, kapa matšoao. Matšoao a atisa ho bokellana hammoho ho etsa e 'ngoe ea li-syndromes tse sa tšoaneng.
Ho tsoela pele ho tsoelang pele Ophthalmoplegia (CPEO) - ka CPEO, mesifa ea mahlo e senyeha butle-butle. Hangata sena se etsahala ha batho ba le lilemong tsa bona tse mashome a mararo, empa ba ka etsahala lilemong leha e le life. Pono e 'meli e batla e le e sa tloaelehang, empa mathata a mang a bonono a ka fumanoa ka tlhahlobo ea ngaka. Mefuta e meng, haholo ha e fumanoa malapeng, e tsamaisana le mathata a ho utloa, ho bua kapa ho emisa mathata, litsebo tsa maikutlo kapa khatello ea maikutlo.
Kearns-Sayre syndrome - Kearns-Sayre syndrome e batla e tšoana le CPEO, empa e na le mathata a mang a mang le lilemo tse sa tsoa feta. Hangata mathata a qala ha batho ba ka tlase ho lilemo tse 20. Mathata a mang a kenyeletsa ho ba le li-retinopathy tse nang le lefuba, cerebellar ataxia , mathata a pelo le ho senyeha ha kelello. Kearns-Sayre syndrome e mabifi ho feta CPEO, mme e ka lebisa lefung ka lilemo tse leshome tsa bophelo.
Leber Hereditary Optic Neuropathy (LHON) - LHON ke mofuta o futsitsoeng oa ho lahleheloa ke pono e bakang bofofu ho bahlankana.
Leigh Syndrome - E boetse e tsejoa e le ho phekola ho fokotsa pelo, lefu la Leigh le atisa ho hlaha ho bana ba banyenyane haholo. boloetse bona bo baka atxia, ho tsieleha , bofokoli, ho lieha ho ntlafatsa, dystonia , le ho feta. Setšoantšo sa Magnetic resonance (MRI) sa boko se bontša letšoao le sa tloaelehang ka basal ganglia. Hangata lefu lena le bolaea likhoeli tse ngata.
Boloetse ba mitochondrial le li-lactic acidosis le li-stroke-tse kang li-episodes (MELAS) - MELAS ke e 'ngoe ea mefuta e tloaelehileng haholo ea mafu a mitochondrial. E futsitsoe ho 'mè. Lefu lena le baka liketsahalo tse tšoanang le lipolao, tse ka bakang bofokoli kapa pono ea tahlehelo. Matšoao a mang a kenyeletsa ho tsietsing, migraine, ho hlatsa, tahlehelo ea kutlo, bofokoli ba mesifa le nako e khutšoanyane. Hangata boloetse bona bo qala bongoaneng 'me bo tsoela pele ho ba le bothata ba' mele. E ka fumanoa ka litekanyetso tse phahameng tsa lactic acid ka mali hammoho le ponahalo ea "fiber e khubelu e phatsimang" e nang le mesifa e nyenyane.
Sethoathoa sa myoclonic se nang le likhoele tse khubelu tse mongobo (MERRF) - Myoclonus ke mesifa e potlakileng haholo, e tšoanang le eo ba bangata ba sa tsoa e robala. Myoclonus ea MERRF e atisa ho feta 'me e lateloa ke bofokoli ba ho oela, ataxia le mesifa. Bokooa, mathata a pono, pherekano ea meriana le 'dementia' le tsona li ka etsahala.
Bokooa ba malapa le lefu la tsoekere (MIDD) - Mathata ana a mitochondrial a atisa ho ama batho ba pakeng tsa lilemo tse 30 ho isa ho tse 40. Ho phaella ho tahlehelo ea kutlo le lefu la tsoekere, batho ba nang le MIDD ba ka ba le tahlehelo ea pono, bofokoli ba mesifa, mathata a pelo, lefu la liphio, lefu la masapo le sekhahla se khutšoanyane.
K'homphieutha ea mitochondrial eintrolopestinal encephalopathy (MNGIE) - Sena se baka ho se tsitse ha mala, e leng se ka lebisang mahlomoleng a mpeng le ho patoa. Mathata le ho tsamaea ha mahlo a tloaelehile, joalo ka ha li-neuropathia le litaba tse tšoeu li fetoha bokong. Lefu lena le fihla hohle ho tloha bongoaneng ho ea ho ba mashome a mahlano empa le tloaelehile ho bana.
Neuropathy, ataxia le retinitis pigmentosa (NARP) - Ho phaella mathateng a methapo ea methapo le ho fokotseha, NARP e ka baka tšenyo ea tsoelo-pele, sethoathoa, bofokoli le 'dementia'.
Matšoao a mang a mitochondrial a kenyeletsa Pearson syndrome (sideroblastic anemia le pancreatic dysfunction), lefu la Barth (lefu lena le amanang le X, lefu la mitochondrial myopathy, le necropusia ea cyclic), nako ea ho hōla, amino aciduria, cholestasis, tšepe ea tšepe, lactic acidosis le lefu la pele (GRACILE ).
Ho lemoha mafu a Mitochondrial
Hobane lefu la mitochondrial le ka baka matšoao a makatsang, mathata ana a ka ba thata le ho lingaka tse koetlisitsoeng ho li hlokomela. Boemong bo sa tloaelehang moo matšoao 'ohle a bonahalang eka a tloaelehile bakeng sa boloetse bo itseng, ho hlahlojoa ha liphatsa tsa lefutso ho ka etsoa ho tiisa hore na ho fumanoa eng. Ho seng joalo, liteko tse ling li ka 'na tsa hlokahala.
Mitochondria e na le boikarabelo ba metabolism ea aerobic, eo bongata ba rona re e sebelisang letsatsi le leng le le leng e le hore re fallele. Ha metabolism ea aerobic e khathetse, joalo ka boikoetliso bo matla, 'mele o na le mokhoa oa ho boloka lihlahisoa tse etsang hore ho be le lactic acid. Ena ke ntho e etsang hore mesifa ea rona e be e phethehile 'me e chese ha re e qeta nako e telele haholo. Hobane batho ba nang le lefu la mitochondrial ba na le bokhoni bo fokolang ba ho sebelisa metabolism ea bona e matla, lactic acid e haha, 'me sena se ka lekanyetsoa le ho sebelisoa e le pontšo ea hore ho hong ho phoso ka mitochondria. Lintho tse ling li ka eketsa lactate hape, leha ho le joalo. Ka mohlala, lactic acid e le cerebrospinal fluid e ka 'na ea phahama ka mor'a ho tsietsoa kapa ho otloa ke lefu. Ho feta moo, mefuta e meng ea boloetse ba mitochondrial, joaloka lefu la Leigh, hangata e na le litekete tse sa tloaelehang.
Tlhahlobo ea motheo e ka kenyelletsa litekanyo tsa lactate ka mali a lero la mali le sesebelisoa sa metsi. Li-electrocardiograms li ka hlahloba bakeng sa arrhythmias, e ka bolaeang. Setšoantšo sa magnetic resonance (MRI) se ka sheba phetoho ea taba e tšoeu . Electromyography e ka sebelisetsoa ho batlisisa lefu la mesifa. Haeba ho na le ho ameha ka ho tsietsing, electroencephalography e ka laeloa. Ho itšetlehile ka matšoao, tlhahlobo ea audiology kapa ea lefu la lithethefatsi e ka boela ea buelloa.
Tsamaiso ea mesifa ke e 'ngoe ea litsela tse ka tšeptjoang haholo tsa ho hlahloba mathata a mitochondrial. Matšoao a mangata a mitochondrial a tla le myopathy, ka linako tse ling esita le haeba ho se na matšoao a hlakileng a kang mesifa kapa ho fokola.
Phekolo Metsing ea Mitochondrial
Nakong ena, ha ho na phekolo e tiisitsoeng ea mathata a mitochondrial. Sepheo ke ho laola matšoao ha ba hlaha. Leha ho le joalo, ho hlahlojoa hantle ho ka thusa ho lokisetsa liphetoho tse tlang, 'me tabeng ea lefu le futsitsoeng, le ka ama moralo oa malapa.
Kakaretso
Ka mantsoe a mang, lefu la mitochondrial le lokela ho belaelloa ha ho e-na le motsoako oa matšoao a amang pelo ea mesifa, boko kapa mahlo. Le hoja lefa la bakhachane le boetse le na le maikutlo a khothatsang, hoa khoneha ebile ho tloaelehile hore lefu la mitochondrial le bakoe ke liphetoho tsa DNA ea nyutlelie, ka lebaka la ho sebelisana pakeng tsa liphatsa tsa lefutso tsa motsoako le mitochondria. Ho feta moo, maloetse a mang a na le li-sporadic, ho bolelang hore li etsahala ka lekhetlo la pele ntle le hore li futsane ho hang. Maloetse a mitochondrial a ntse a le a sa tloaelehang 'me a laoloa ke setsebi se nang le kutloisiso e tiileng ea sehlopha sena sa mafu a methapo ea pelo.
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