Ingabe kukhona okungahambi kahle "ngendlu yamandla" yomzimba wakho? Ake sifunde ngezifo ze-Mitochondrial!

Ingabe ngezinye izikhathi uyazibuza ukuthi kungani ngikhathele kangaka? Noma ingabe ukhona emndenini wakho onenkinga yezempilo engaphezu kweyodwa, futhi kunzima ukuthola isizathu esicacile salokho? Ngezinye izikhathi isizathu salokhu kungaba ushintsho kwenye yezinto ezincane kakhulu emizimbeni yethu. Namuhla sizokhuluma ngento eyinkimbinkimbi kancane, kodwa ebaluleke kakhulu ukuyazi. Leyo yiMitochondrial Diseases.

Ziyini lezi mitochondria? "Indlu enamandla" yomzimba?

Kalula nje, i-mitochondria yizitshalo ezincane zamandla ngaphakathi kweseli ngalinye emzimbeni wethu. Zifana nesiteshi sikagesi esikhiqiza ugesi ukuze sinikeze amandla emakhaya ethu. Sisebenzisa ukudla esikudlayo nomoya-mpilo esiwuphefumulayo, la ma-mitochondria akhiqiza u-90% wamandla imizimba yethu ewadingayo ukuze isebenze. Cabanga nje, ubuchopho bethu budinga amandla ukuze busebenze, izinhliziyo zethu zidinga amandla ukuze zishaye, imisipha yethu idinga amandla ukuze isebenze. Ama-mitochondria angumthombo oyinhloko walawo mandla. Yingakho ebizwa ngokuthi "indlu yamandla yeseli."

Ngakho-ke ziyini izifo ze-mitochondrial?

Manje usuyaqonda ukuthi i-mitochondria ibaluleke kangakanani. Ngakho-ke, uma lezi zitshalo zikagesi ezibizwa ngokuthi i-mitochondria zingasebenzi kahle, noma uma zingakwazi ukukhiqiza amandla njengoba kudingeka, izifo ezenzekayo zibizwa ngokuthi izifo ze-mitochondrial. Njengoba nje isiteshi sikagesi siphuka futhi wonke umsebenzi wethu uyeka ngaphandle kokukhanya, uma i-mitochondria ingakhiqizi amandla kahle, izitho zomzimba wethu azikwazi ukwenza imisebenzi yazo.

Lezi zifo zingathinta noma iyiphi ingxenye yomzimba. Isibonelo:

• Ebuchosheni
• Uhlelo lwezinzwa
• Imisipha
• Izinso
• Inhliziyo
• Isibindi
• Amehlo
• Izindlebe
• I-Pancreas

Amaseli angathinteka noma kuphi kanje.

Ingabe zikhona izinhlobo zezifo ze-mitochondrial?

Yebo, isifo se-mitochondrial akusona isifo esisodwa, kunezinhlobo eziningi. Lezi ziyinkimbinkimbi kancane, futhi odokotela yibona abazixilonga ngqo. Kodwa ukuze wazi ngokujwayelekile, nazi ezinye zezinhlobo ezivame kakhulu:

• I-Mitochondrial encephalopathy, i-lactic acidosis, kanye nezimpawu ezifana nesifo sohlangothi (i-MELAS syndrome)
• I-Leber hereditary optic neuropathy (LHON)
• I-Leigh syndrome
• I-Kearns-Sayre syndrome (KSS)
• Isifo sokuwa esibangelwa yi-myoclonic kanye nesifo se-ragged-red fiber (MERRF)

La magama angase azwakale engavamile kancane, kodwa lawa amagama lezi zifo ezaziwa ngawo kwezesayensi yezokwelapha.

Zivame kangakanani lezi zifo?

Kulinganiselwa ukuthi cishe umuntu oyedwa kwabangu-5,000 angaba nesifo se-mitochondrial esibangelwa izakhi zofuzo.Kodwa lokhu kuyinkimbinkimbi kancane. Ngenxa yokuthi izimpawu zalezi zifo ziyahlukahluka kakhulu futhi zithinta izinhlelo ezahlukene zezitho zomzimba, ngezinye izikhathi lesi sifo singatholakala sekwephuzile, noma singaphambaniswa nesinye isifo. Ngakho-ke, inani langempela labantu abanalesi sifo lingase libe phezulu kakhulu.

Ziyini izimpawu zezifo ze-mitochondrial?

Lokhu kubaluleke kakhulu. Izimpawu zezifo ze-mitochondrial zingahluka kakhulu kumuntu nomuntu. Futhi, izimpawu ziyahlukahluka kuye ngohlobo nendawo yamaseli athintekile yilesi sifo. Kwabanye abantu, izimpawu zingaba zicashile kakhulu , kanti kwabanye, zingaba zimbi kakhulu.

Ezinye zezimpawu ezivamile ezingabonakala yilezi:

• Ukukhubazeka kokukhula (ikakhulukazi ezinganeni ezincane)
• Ubuthakathaka bemisipha, ubuhlungu bemisipha, noma ukwehla kwethoni yemisipha
• Ukukhubazeka kokubona kanye/noma ukuzwa
• Ukubambezeleka kokukhula noma izinkinga zokukhula kwengqondo (isb., ukukhubazeka kokufunda)
• Izinkinga zesisu ezifana nesifo sohudo noma ukuqunjelwa
• Ukuhlanza ngaphandle kwesizathu
• Ukubuyela kwe-acid kanye/noma ubunzima bokugwinya
• Ukuba nesifo sokuwa (ukuxhuzula)
• I-Migraines
• Ubunzima bokuphefumula
• Ukuquleka

Lezi zimpawu zingaqala ekuzalweni, noma zingavela kunoma yimuphi ubudala empilweni. Udokotela uvame ukusola lolu hlobo lwesifo uma izimpawu zivela ezithweni ezingaphezu kwesisodwa ngesikhathi esisodwa. Okumangazayo ukuthi ngisho nabantu emndenini owodwa abanesifo esifanayo se-mitochondrial bangaba nezimpawu ezahlukene.

Kungani lezi zifo ze-mitochondrial zenzeka?

Kalula nje, imbangela eyinhloko yezifo ze-mitochondrial ukungakwazi kwe-mitochondria emaseli ethu ukukhiqiza amandla anele. Ukuze i-mitochondria ikhiqize amandla, kudingeka ithole imiyalelo efanele evela ku-'DNA' yomzimba wethu (izakhi zofuzo). Uma kukhona ushintsho kule 'DNA' (odokotela bayibiza ngokuthi 'ukuguqulwa'), i-mitochondria ayitholi leyo miyalelo ngendlela efanele. Khona-ke ukukhiqizwa kwamandla kuyaphazamiseka. Lokhu kungalimaza amaseli, noma amaseli angafa ngokushesha. Yilokhu okuthinta ukusebenza kwezitho zethu futhi kubangele izimpawu.

Umuntu uba kanjani nesifo se-mitochondrial?

Izifo ze-Mitochondria ziyiqembu lezifo zofuzo. Lokhu kusho ukuthi singazithola njengefa kubazali bethu. Leli fa lingenzeka ngezindlela ezimbili eziyinhloko:

1. I-Autosomal dominant: Lokhu kusho ukuthi lesi sifo singavela noma ngabe i-gene eshintshiwe ebangela lesi sifo izuzwe njengomzali oyedwa kuphela.

2. I-Autosomal recessive: Kulesi simo, i-gene ethintekile kumele izuzwe njengefa kubazali bobabili ukuze lesi sifo sivele.

Ngezinye izikhathi, noma ngabe akekho emndenini oke waba nalesi sifo ngaphambili, othile angasithola ngengozi ngenxa yoshintsho olusha lwezakhi zofuzo (lokhu kubizwa ngokuthi i-`de novo mutation`).

Enye into ekhethekile ukuthi,Ezinye izifo ze-mitochondrial zizuzwa nge-'DNA' ethile kwi-mitochondria. Yebo, ukuzwile lokho kahle. Ngaphezu kwe-'DNA' enkabeni yamaseli ethu, i-mitochondria nayo ine-'DNA' yayo. Izifo ze-mitochondrial ezibangelwa izinguquko kule 'DNA ye-mitochondrial ' zizuzwa kuphela ngumama ezinganeni zakhe.

Ingabe ezinye izimo zezokwelapha zingadala izinkinga ze-mitochondrial?

Yebo, kubizwa ngokuthi ukungasebenzi kahle kwe-mitochondrial yesibili . Lokhu kwenzeka lapho i-mitochondria ingasebenzi kahle ngenxa yesinye isifo noma isimo. Ezinye zezifo ezingadala lokhu yilezi:

• Isifo sika-Alzheimer
• Ukuwohloka kwemisipha
• Isifo sikashukela sohlobo 1
• I-Multiple sclerosis (MS)
• Umdlavuza

Uma unezinkinga zesibili ze-mitochondrial, akusona isifo se-mitochondrial esibangelwa izakhi zofuzo.

Yiziphi izici eziyingozi zokuthuthukisa izifo ze-mitochondrial?

Uma othile emndenini wakho enalesi sifo, noma uma unesinye isimo esibangela ukungasebenzi kahle kwe-mitochondrial yesibili, usengozini enkulu yokuthola isifo se-mitochondrial. Lezi zifo zingathinta abantu abadala nezingane ezincane.

Yiziphi izinkinga ezingaba khona zalezi zifo?

Izifo ze-Mitochondria zingathinta ukusebenza kwezitho zethu zomzimba, okuholela ezinkingeni ezahlukahlukene. Isibonelo:

• Ingozi ephezulu yokutheleleka
• Ukushaya kwenhliziyo
• Ukwehluleka kwe-pancreatic
• Ukwehluleka kwe-Parathyroid
• Isifo sikashukela
• Ukwehluleka kwesibindi
• I-cardiomyopathy
• Isifo sezinso
• I-Dementia (ukukhubazeka kwenkumbulo nokuhlakanipha)
• Izimo zesisu
• Ijwabu leso eligobile (i-Ptosis)

Ezinye zalezi zinkinga zingaba yingozi ngisho nasekufeni, ngakho-ke kubaluleke kakhulu ukuqaphela lokhu.

Isifo se-mitochondrial sitholakala kanjani?

Lena inqubo eyinkimbinkimbi kancane. Udokotela uxilonga isifo se-mitochondrial ngemuva kochungechunge lokuhlolwa. Lokhu kungafaka:

• Ukubuyekezwa okuningiliziwe komlando wakho wezokwelapha kanye nomlando wezokwelapha womndeni.
• Ukuhlolwa okuphelele ngokomzimba.
• Ukuhlolwa kwezinzwa.
• Ukuhlolwa kwe-metabolic, okuhlanganisa ukuhlolwa kwegazi nomchamo. Uma kudingeka, ukuhlolwa koketshezi lomgogodla (okwaziwa nangokuthi i-spinal tap) nakho kungenziwa.
• Ukuhlolwa kwe-DNA.

Kuye ngezimpawu zakho kanye nezingxenye zomzimba wakho ezithintekile, kungase kwenziwe izivivinyo ezithile. Isibonelo:

• Uma kunezimpawu zezinkinga zesimiso sezinzwa, kungenziwa ukuhlolwa kwe-MRI (Magnetic Resonance Imaging) noma i-MRS (Spectroscopy).
• Ukuhlolwa kwe-retinal noma ukuhlolwa kwe-ERG (Electroretinogram) kwenziwa ukuze kuhlolwe izinkinga zokubona.
• Ukuhlolwa kwe-EKG (i-Electrocardiogram) noma i-Echocardiogram kwezimpawu ezihlobene nenhliziyo.
• Ukuhlolwa kwe-'Audiogram' kwezinkinga zokuzwa.
• Ukuhlolwa kwe-`EEG (Electroencephalogram)` kwenziwa ukuze kubhekwe izinkinga ezihlobene nobuchopho njengoba ukufaneleka kusondela.

Ukuhlolwa okuthuthukile kakhulu kungafaka ukuhlolwa kwamakhemikhali, okubheka izinguquko kumakhemikhali omzimba ahilelekile ekukhiqizweni kwamandla. Ngezinye izikhathi, udokotela angathatha isampula encane yesikhumba sakho noma izicubu zemisipha (i-biopsy) bese eyihlola ngaphansi kwe-microscope.

Ingabe kunzima ukuthola izifo ze-mitochondrial?

Yebo, ukuhlonza izifo ze-mitochondrial ngezinye izikhathi kungaba nzima. Lokhu kungenxa yokuthi lezi zifo zithinta izitho eziningi ezahlukene kanye nezicubu zomzimba, futhi izimpawu ziyahlukahluka kakhulu. Akukho ukuhlolwa okukodwa kwelabhorethri okungakutshela ngokuqinisekile ukuthi unalesi sifo. Yingakho kubaluleke kakhulu ukufuna ukuxilongwa kudokotela ochwepheshe kulezi zifo.

Ziphathwa kanjani izifo ze-mitochondrial?

Ukwelashwa kwesifo se-mitochondrial kuyahlukahluka kuye ngohlobo lwesifo kanye nezimpawu zakho. Ukwelashwa kungafaka:

• Ukusebenzisa imithi yokunciphisa izimpawu. Isibonelo, imithi yokuvimba ukuguguleka komzimba ukuthi kungafiki.
• Ukuthatha amavithamini noma izithasiselo zokudla okunempilo. Isibonelo: i-Riboflavin, i-Coenzyme Q10, i-Carnitine.
• Izinguquko ekudleni (ukudla okunempilo) kanye nokuzivocavoca umzimba.
• Ukwelashwa ngokomzimba, ukwelashwa ngokomsebenzi, noma ukwelashwa ngenkulumo.
• Ukugqoka izinto zokusiza njengezinsiza zokuzwa.

Ngeshwa, okwamanje akukho ukwelashwa kwesifo se-mitochondrial. Ukwelashwa kuhloswe kakhulu ekuvimbeleni izinkinga ezisongela impilo nokuthuthukisa ikhwalithi yokuphila ngokulawula izimpawu. Okusebenza komunye umuntu kungase kungasebenzi komunye, ngisho noma enesifo esifanayo.

Ingabe ikhona imiphumela emibi yokwelashwa?

Yebo, njenganoma yikuphi ukwelashwa, kunemiphumela emibi engaba khona. Kubalulekile ukuxoxa ngayo nodokotela wakho ngaphambi kokuqala ukwelashwa. Lokhu kuzokusiza uqonde imiphumela emibi ethile yokwelashwa okutholayo nokuthi yini ongayilindela.

Ingabe izifo ze-mitochondrial zingavinjelwa?

Okwamanje ayikho indlela eyaziwayo yokuvimbela isifo se-mitochondrial esibangelwa izakhi zofuzo. Kodwa-ke, uma unesifo, ungagwema ezinye zezinto ezingenza izimpawu zakho zibe zimbi kakhulu. Isibonelo:

• Ukuchayeka emakhazeni amakhulu kanye/noma ekushiseni.
• Ukungadli ukudla.
• Ukungalali ngokwanele.
• Ukucindezeleka.

Ngezinye izikhathi udokotela angase akucebise ukuthi wonge amandla akho. Lokho kusho ukuthi ungasebenzisi wonke amandla akho ngesikhathi esifushane.

Ungaphila isikhathi esingakanani unesifo se-mitochondrial?

Udokotela wakho angawuphendula kangcono lo mbuzo. Lokhu kuncike ezimpawini zakho, izitho zomzimba ezithintekile, kanye nempilo yakho ejwayelekile. Ezinye izingane nabantu abadala baphila isikhathi esijwayelekile sokuphila, njengomuntu ongenaso lesi sifo. Kwabanye, impilo yabo ingashintsha kakhulu esikhathini esifushane. Kwabanye, izimpawu zingase zivele ngezikhathi ezithile empilweni yabo yonke. Nakuba kungekho ukwelashwa kwezifo ze-mitochondrial, ucwaningo luyaqhubeka ukuze kutholakale okwengeziwe.

Kufanele ngimbone nini udokotela?

Uma izimpawu zakho zesifo se-mitochondrial zithinta imisebenzi yakho yansuku zonke kuze kube yilapho ungakwazi ukusebenza kahle, qiniseka ukuthi ubona udokotela. Uma uhlangabezana nezimpawu ezinzima, njengokuquleka noma ubunzima bokuphefumula, shayela u-911 noma inombolo yakho yezimo eziphuthumayo yendawo ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Ungabuza udokotela wakho imibuzo efana nale:

• Uhlobo luni lwesifo se-mitochondrial olubangele izimpawu zami?
• Hlobo luni lokwelashwa olunconywayo?
• Ingabe ikhona imiphumela emibi yokwelashwa?
• Kufanele ngithathe kangaki amavithamini noma izithasiselo?
• Hlobo luni lokudla olunconywayo?
• Ngingonga kanjani amandla ami?
• Ingabe kukhona amaqembu okusekela abantu abanezifo ze-mitochondrial?

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Ukuthola ukuthi wena noma othandekayo wakho unesifo se-mitochondrial kungaba yisinqumo esinzima. Ngenxa yokuthi lesi sifo singathinta izinhlelo eziningi emzimbeni, kungadingeka wenze izinguquko endleleni yakho yokuphila. Kodwa khumbula, awuwedwa. Ngaphezu kokusekelwa umndeni wakho nabangani, ithimba lakho lezokunakekelwa kwempilo lingakusiza futhi ukuthi ubhekane nalezi zinketho zokuxilonga nokwelashwa.

Nakuba kungekho ukwelashwa kwesifo se-mitochondrial, ukwelashwa kungasiza ekunciphiseni izimpawu futhi kunciphise ukuqhubeka kwalesi sifo. Into ebaluleke kakhulu ukuhlala unethemba, ulandele iseluleko sikadokotela wakho, futhi uphile impilo yakho ngokugcwele.

Sithemba ukuthi lolu lwazi luwusizo. Sizobonana futhi ngolwazi olubaluleke kakhulu lwezempilo olufana nalolu!

I- Mitochondria, izifo ze-mitochondrial, izifo zofuzo, amandla eseli, ukukhiqizwa kwamandla, izimpawu, ukwelashwa