Ezempilo, Izifo Nezimo

I-mitochondrial syndrome esemncane

Izifo ze-Mitochondrial, futhi ikakhulukazi i-mitochondrial syndrome, engabonakaliswa yizilonda zesimiso se-central central, izinhliziyo kanye namathambo we-muscle pathologies, namuhla yiyinye yezingxenye ezibaluleke kakhulu ze-neuropediatrics.

I-Mitochondria - iyini?

Abaningi bakhumbula kusukela esikoleni sesayensi ye-biology, i-mitochondria ingenye ye-organelles yeselula, eyomsebenzi wayo oyinhloko ukubunjwa kwama-molecule we-ATP ekwenzeni ukuphefumula kwamaselula . Ngaphezu kwalokho, i-oxidizes fatty acids, idlula umjikelezo we-tricarboxylic acid nezinye izinqubo eziningi. Izifundo ezenziwa ekupheleni kwekhulu lama-20 ziye zenza kube lula ukukhomba ukubaluleka okubalulekile kwe-mitochondria ezinjalo ezinjengokuzwela kwezidakamizwa, ukuguga kwamangqamuzana, i-apoptosis (i-cellmed death cell). Ngakho-ke, ukwephulwa kwemisebenzi yabo kubangela ukungabi namandla okushintsha amandla, futhi ngenxa yalokho, ukulimala nokufa kweseli. Ikakhulukazi, lezi zinkinga zizibonakalisa ngokwabo emasethini wesimiso sezinzwa nemisipha yamathambo.

I-Mitochondriology

Ucwaningo lwe-genetic lwenze ukuba kunqunywe ukuthi i-mitochondria ibe ne-genome ehlukile kune-genome ye-cell nucleus, futhi ukuphazanyiswa ekusebenzeni kwayo kuvamise ukuhlotshaniswa nezinguquko ezenzeka lapho. Konke lokhu kwenza kube lula ukukhomba ukuqondiswa kwesayensi ekutadisheni izifo ezihambisana nemisebenzi engenakukhubazeka kwe-mitochondria, ukuxilongwa kwe-mitochondrial. Kungaba kokubili okungahleliwe futhi okubeletha, okuzuzwa njengefa lomama.

Isibalo

I-mitochondrial syndrome ingazibonakalisa ezinkambisweni ezihlukahlukene zabantu, kodwa ukubonakaliswa okuvezwe kakhulu yizimpawu zezinzwa. Lokhu kubangelwa ukuthi izicubu ezisabekayo zithinteka kakhulu yi-hypoxia. Izici eziyimfanelo ezenza kube lula ukusola ukuthi i-mitochondrial syndrome ekunqothulweni kwemisipha yamathambo yi-hypotension, ukungakwazi ukubekezelela ngokwanele ukuvivinya umzimba, ama-myopathies ahlukahlukene, i-ophthalmoparesis (ukukhubazeka kwamathambo e- oculomotor), i- ptosis. Ngxenyeni yesimiso sezinzwa, kungase kube nokuhlambalaza-njengokubonakaliswa, ukuhlukunyezwa, ukuphazamiseka kwe-pyramidal, ukuphazamiseka kwengqondo. Njengomthetho, i-mitochondrial syndrome enganeni ihlale ibonakala ngokulibaziseka ekuthuthukiseni noma ekulahlekelweni kwamakhono atholakale kakade, ngokuphazanyiswa kwezingqondo zomqondo. Uhlelo lwe-endocrine alufaki ukuthuthukiswa kwesifo sikashukela, ukungasebenzi komzimba we-thyroid kanye ne-pancreas, ukuphoqa, ukukhulelwa. Izilonda zenhliziyo zingathuthuka ngokumelene nesizinda sezinkinga zezinye izitho, futhi ngokuzihlukanisa. I-mitochondrial syndrome kuleli cala iboniswa ngukudla komzimba.

Izifo

Izifo ze-mitochondrial zivame ukutholakala ngesikhathi sokuzalwa kwezinsana noma eminyakeni yokuqala yokuphila kwengane. Ngokwezifundo zakwamanye amazwe, lesi sifo sitholakale esanda kuzalwa esingu-5 000. Ukuze uthole ukuxilongwa, ukuhlolwa okuyinkimbinkimbi, izifo zofuzo, izinsimbi, i-biochemical kanye nokuhlolwa kwamangqamuzana kwenziwa. Kuze kube yimanje, kunezinhlobo zezindlela zokunquma le pathology.

I-Electromyography - ngemiphumela evamile ngokumelene nesizinda sokubuthakathaka kwemisipha esikhwameni ikuvumela ukuba usolise i-mitochondrial pathologies.
I-Lactoacidosis ivame ukuhamba nezifo ze-mitochondrial. Yiqiniso, ukuphela kwakhe kuphela okwanele ukuthola ukuxilongwa, kepha ukulinganisa izinga le-lactic acid egazini ngemuva kokuzivocavoca kungaba ulwazi oluhle kakhulu.
Ukuhlolwa kwe- skeletal muscle biopsy kanye ne-histochemical ye-biopsy etholakalayo yiyona efundisa kakhulu.
Imiphumela emihle ibonisa ukusetshenziswa okukodwa kokukhanya kwe-light kanye ne-electron microscopy yemisipha yamathambo.

Ukuxilongwa kwe-Mitochondrial (Leia's syndrome)

Esinye sezifo ezivame kakhulu izingane ezihambisana nezinguquko zofuzo e-mitochondria yi-Leia's syndrome, echazwe okokuqala ngo-1951. Izimpawu zokuqala zivela eminyakeni yobudala kuya kwemithathu, kepha ukubonakala kwangaphambili kunokwenzeka - ngenyanga yokuqala yokuphila noma, ngokuphambene, emva kweminyaka eyisikhombisa. Ukubonakaliswa kokuqala ukubambezeleka ekuthuthukisweni, ukulahlekelwa isisindo, ukulahlekelwa ukudla, ukuhlanza okuphindaphindiwe. Ngokuhamba kwesikhathi, izimpawu ze-neurological zengezwe - isifo somzimba we-muscle (hypotension, i-dystonia, i-hypertonia), ukuxuba, ukusebenzisana nokukhubazeka.

Lesi sifo sithinta izitho zombono: i- atrophy yezinzwa ze-optic iqala , ukubola kwe-retinal, ukuphazamiseka kwe-oculomotor. Ezinganeni eziningi, lesi sifo sithuthuka kancane kancane, izimpawu zokukhushulwa kwezidakamizwa, ukukhukhumazeka, umsebenzi wokuphefumula.

Enye yezingane ezibhekene nalesi sifo kwakuyi-Pugachev Efim, ogama lakhe le-mitochondrial syndrome litholakala ngo-2014. Unina, u-Elena, ucela usizo kubo bonke abantu abangenandaba.