Ngaba kukho into engalunganga "kwindawo yamandla" yomzimba wakho? Masifunde ngezifo zeMitochondrial!

Ngaba ngamanye amaxesha ukhe uzibuze ukuba kutheni ndidiniwe kangaka? Okanye ngaba kukho umntu kusapho lwakho oneengxaki zempilo ezingaphezu kwesinye, kwaye kunzima ukufumana isizathu esicacileyo saloo nto? Ngamanye amaxesha isizathu sale nto sinokuba kukutshintsha kwenye yezona zinto zincinci emizimbeni yethu. Namhlanje siza kuthetha ngento enzima ngakumbi, kodwa ebaluleke kakhulu ukuyazi. Leyo yiMitochondrial Diseases.

Zithini ezi mitochondria? "Indlu yamandla" yomzimba?

Ngamafutshane, i-mitochondria zizityalo zamandla ezincinci ngaphakathi kwiseli nganye emzimbeni wethu. Zifana nesikhululo samandla esivelisa umbane ukuze sinike amandla emakhaya ethu. Zisebenzisa ukutya esikutyayo kunye neoksijini esiyiphefumlayo, ezi mitochondria zivelisa i-90% yamandla afunekayo emizimbeni yethu ukuze isebenze. Cinga nje, ubuchopho bethu bufuna amandla ukuze busebenze, iintliziyo zethu zifuna amandla okubetha, izihlunu zethu zifuna amandla ukuze zisebenze. I-Mitochondria yeyona mthombo uphambili wamandla. Yiyo loo nto zibizwa ngokuba "yindlu yamandla yeseli."

Ngoko ke zithini izifo ze-mitochondrial?

Ngoku uyaqonda ukuba zibaluleke kangakanani ii-mitochondria. Ngoko ke, ukuba ezi zityalo zamandla ezibizwa ngokuba yi-mitochondria azisebenzi kakuhle, okanye ukuba azikwazi ukuvelisa amandla njengoko kufuneka, izifo ezenzekayo zibizwa ngokuba zizifo ze-mitochondrial. Njengokuba isikhululo samandla siwohloka kwaye wonke umsebenzi wethu uyema ngaphandle kokukhanya, ukuba i-mitochondria ayivelisi amandla ngokufanelekileyo, amalungu omzimba wethu awakwazi ukwenza imisebenzi yawo.

Ezi zifo zinokuchaphazela naliphi na ilungu lomzimba. Umzekelo:

• Engqondweni
• Inkqubo yemithambo-luvo
• Izihlunu
• Izintso
• Intliziyo
• Isibindi
• Amehlo
• Iindlebe
• I-Pancreas

Iiseli zinokuchaphazeleka naphi na ngolu hlobo.

Ngaba kukho iintlobo zezifo ze-mitochondrial?

Ewe, isifo se-mitochondrial asisosifo esinye, zininzi iintlobo. Ezi zinzima kancinci, kwaye oogqirha ngabona bazixilonga ngokuchanekileyo. Kodwa ukuze wazi ngokubanzi, nazi ezinye zezona ntlobo zixhaphakileyo:

• I-Mitochondrial encephalopathy, i-lactic acidosis, kunye neempawu ezifana ne-stroke (i-MELAS syndrome)
• I-Leber hereditary optic neuropathy (LHON)
• Isifo sikaLeigh
• Isifo sikaKearns-Sayre (KSS)
• Isifo se-Myoclonic epilepsy kunye nesifo se-ragged-red fiber (MERRF)

La magama asenokuvakala engaqhelekanga, kodwa la ngamagama aziwa ngawo ezi zifo kwisayensi yezonyango.

Zixhaphake kangakanani ezi zifo?

Kuqikelelwa ukuba umntu omnye kwabayi-5,000 unokuba nesifo se-mitochondrial esibangelwa yimfuza.Kodwa oku kuyinkimbinkimbi kancinci. Ngenxa yokuba iimpawu zezi zifo zahlukene kakhulu kwaye zichaphazela iinkqubo ezahlukeneyo zamalungu omzimba, ngamanye amaxesha isifo sinokufunyaniswa emva kwexesha, okanye singaphazanyiswa njengesinye isifo. Ke ngoko, inani labantu abanale sifo linokuba phezulu kakhulu.

Zithini iimpawu zezifo ze-mitochondrial?

Oku kubaluleke kakhulu. Iimpawu zezifo ze-mitochondrial zingahluka kakhulu kumntu nomntu. Kwakhona, iimpawu ziyahluka ngokuxhomekeke kuhlobo kunye nendawo ezikuyo iiseli ezichaphazelekileyo sesi sifo. Kwabanye abantu, iimpawu zinokuba zingabonakali kangako , ngelixa kwabanye, zinokuba nzima kakhulu.

Ezinye zeempawu eziqhelekileyo ezinokubonwa zezi:

• Ukulibaziseka kokukhula (ingakumbi kubantwana abancinci)
• Ubuthathaka bemisipha, iintlungu zemisipha, okanye ukuncipha kwethoni yemisipha
• Ukuphazamiseka kokubona kunye/okanye ukuva
• Ukulibaziseka kophuhliso okanye iingxaki zophuhliso lwengqondo (umz., ukukhubazeka kokufunda)
• Iingxaki zesisu ezifana norhudo okanye ukuqhinwa
• Ukuhlanza ngaphandle kwesizathu
• Ukubuyela kwe-asidi kunye/okanye ubunzima bokuginya
• Ukuba nesithukuthezi (ukuxhuzula)
• Iintloko ezibuhlungu
• Ubunzima bokuphefumla
• Ukuquleka

Ezi mpawu zinokuqala ekuzalweni, okanye zivele nakweyiphi na iminyaka ebomini. Ugqirha uhlala ecinga ukuba olu hlobo lwesifo luvela kwizitho zomzimba ezingaphezu kwesinye ngaxeshanye. Okumangalisayo kukuba nabantu abakusapho olunye abanesifo esifanayo se-mitochondrial banokuba neempawu ezahlukeneyo.

Kutheni ezi zifo ze-mitochondrial zenzeka?

Ngamafutshane, imbangela ephambili yezifo ze-mitochondrial kukungabi namandla kwe-mitochondria kwiiseli zethu ukuvelisa amandla aneleyo. Ukuze i-mitochondria ivelise amandla, kufuneka ifumane imiyalelo echanekileyo kwi-'DNA' yomzimba wethu (iijini). Ukuba kukho utshintsho kule 'DNA' (oogqirha bayibiza ngokuba yi-'mutation'), i-mitochondria ayifumani loo miyalelo ngokuchanekileyo. Emva koko imveliso yamandla iyaphazamiseka. Oku kungonakalisa iiseli, okanye iiseli zinokufa ngokukhawuleza. Yile nto ichaphazela ukusebenza kwamalungu ethu kwaye ibangele iimpawu.

Umntu uba njani nesifo se-mitochondrial?

Izifo ze-Mitochondrial liqela lezifo zemfuza. Oku kuthetha ukuba singazizuza njengelifa kubazali bethu. Eli lifa linokwenzeka ngeendlela ezimbini eziphambili:

1. I-Autosomal dominant: Oku kuthetha ukuba esi sifo sinokwenzeka nokuba i-gene etshintshileyo ebangela esi sifo ifunyenwe kumzali omnye kuphela.

2. I-Autosomal recessive: Kwimeko enjalo, i-gene echaphazelekayo kufuneka ifunyanwe ngabazali bobabini ukuze isifo sivele.

Ngamanye amaxesha, nokuba akukho mntu kusapho lwakhe wakha waba nesi sifo ngaphambili, umntu unokufumana esi sifo ngengozi ngenxa yotshintsho olutsha lwemfuza (oku kubizwa ngokuba yi-'de novo mutation').

Enye into ekhethekileyo yile,Ezinye izifo ze-mitochondrial zizuzwa nge-'DNA' ethile kwi-mitochondria. Ewe, ukuvile kakuhle oko. Ukongeza kwi-'DNA' ekwi-nucleus yeeseli zethu, i-mitochondria ikwanayo ne-'DNA' yayo. Izifo ze-mitochondrial ezibangelwa lutshintsho kule 'DNA ye-mitochondrial ' zizuzwa kuphela ngumama ukuya kubantwana bakhe.

Ngaba ezinye iimeko zonyango zingabangela iingxaki ze-mitochondrial?

Ewe, kubizwa ngokuba yi -secondary mitochondrial dysfunction . Oku kwenzeka xa i-mitochondria ingasebenzi kakuhle ngenxa yesinye isifo okanye imeko. Ezinye zezifo ezinokubangela oku zezi:

• Isifo sika-Alzheimer
• Ukungakwazi kwemisipha
• Uhlobo loku-1 lweswekile
• I-Multiple sclerosis (MS)
• Umhlaza

Ukuba une-mitochondrial dysfunction yesibini, ayisosifo se-mitochondrial esibangelwa lufuzo.

Ziziphi izinto ezibangela umngcipheko wokuphuhlisa izifo ze-mitochondrial?

Ukuba kukho umntu kusapho lwakho onesi sifo, okanye ukuba unesinye isifo esibangela ukungasebenzi kakuhle kwe-mitochondrial yesibini, usengozini enkulu yokufumana isifo se-mitochondrial. Ezi zifo zinokuchaphazela abantu abadala kunye nabantwana abancinci.

Ziziphi iingxaki ezinokubakho zezi zifo?

Izifo ze-Mitochondrial zinokuchaphazela ukusebenza kwamalungu ethu omzimba, nto leyo ekhokelela kwiingxaki ezahlukeneyo. Umzekelo:

• Umngcipheko ophezulu wosulelo
• Izibetho
• Ukungaphumeleli kwePancreatic
• Ukungaphumeleli kwe-Parathyroid
• Isifo seswekile
• Ukungasebenzi kakuhle kwesibindi
• I-Cardiomyopathy
• Isifo sezintso
• I-Dementia (ukuphazamiseka kwenkumbulo kunye nobukrelekrele)
• Iimeko zesisu
• Ijwabu eligobileyo (i-Ptosis)

Ezinye zezi ngxaki zinokuba yingozi ebomini, ngoko ke kubaluleke kakhulu ukukwazi oku.

Isifo se-mitochondrial sifunyanwa njani?

Le yinkqubo enzima kancinci. Ugqirha uxilonga isifo se-mitochondrial emva kovavanyo oluninzi. Oku kungabandakanya:

• Uphononongo olupheleleyo lwembali yakho yezonyango kunye nembali yezonyango yosapho.
• Uvavanyo olupheleleyo lomzimba.
• Uvavanyo lwe-neurological.
• Uvavanyo lwe-metabolism, oluquka uvavanyo lwegazi nomchamo. Ukuba kuyimfuneko, uvavanyo lwe-cerebrospinal fluid (olwaziwa ngokuba yi-spinal tap) lunokwenziwa.
• Uvavanyo lwe-DNA.

Ngokuxhomekeke kwiimpawu zakho kunye namalungu omzimba wakho achaphazelekileyo, kunokwenziwa uvavanyo oluthe ngqo ngakumbi. Umzekelo:

• Ukuba kukho iimpawu zeengxaki zenkqubo yemithambo-luvo, kunokwenziwa uvavanyo lwe-MRI (Magnetic Resonance Imaging) okanye lwe-MRS (Spectroscopy).
• Uvavanyo lwe-retina okanye uvavanyo lwe-ERG (Electroretinogram) lwenziwa ukujonga iingxaki zokubona.
• Uvavanyo lwe-EKG (Electrocardiogram) okanye i-Echocardiogram ukuze kubonwe iimpawu ezinxulumene nentliziyo.
• Uvavanyo lwe-'Audiogram' lweengxaki zokuva.
• Uvavanyo lwe-`EEG (Electroencephalogram)` lwenziwa ukujonga iingxaki ezinxulumene nobuchopho njengoko ukufaneleka kusondela.

Uvavanyo oluphambili lunokubandakanya uvavanyo lwe-biochemical, olujonga utshintsho kwiikhemikhali zomzimba ezibandakanyekayo ekuvelisweni kwamandla. Ngamanye amaxesha, ugqirha unokuthatha isampuli encinci yesikhumba sakho okanye izicubu zemisipha (i-biopsy) aze ayihlole phantsi kwe-microscope.

Ngaba kunzima ukufumanisa izifo ze-mitochondrial?

Ewe, ukufumanisa izifo ze-mitochondrial ngamanye amaxesha kunokuba nzima. Oku kungenxa yokuba ezi zifo zichaphazela amalungu amaninzi kunye nezicubu zomzimba, kwaye iimpawu zahlukile kakhulu. Akukho vavanyo lunye lwelabhoratri olunokukuxelela ngokuqinisekileyo ukuba unaso esi sifo. Yiyo loo nto kubaluleke kangaka ukufuna ukuxilongwa kugqirha ochwephesha kwezi zifo.

Zinyangwa njani izifo ze-mitochondrial?

Unyango lwesifo se-mitochondrial luyahluka ngokuxhomekeke kuhlobo lwesifo kunye neempawu zakho. Unyango lungabandakanya:

• Ukusebenzisa amayeza ukunciphisa iimpawu. Umzekelo, amayeza okuthintela ukuba isicaphucaphu singangeni.
• Ukuthatha iivithamini okanye izongezo zesondlo. Umzekelo: iRiboflavin, iCoenzyme Q10, iCarnitine.
• Utshintsho kwindlela yokutya (isondlo) kunye nokuzilolonga.
• Unyango lomzimba, unyango lomsebenzi, okanye unyango lokuthetha.
• Ukunxiba izixhobo zokuncedisa ezifana nezixhobo zokuva.

Ngelishwa, okwangoku akukho nyango lwesifo se-mitochondrial. Unyango lujolise kakhulu ekuthinteleni iingxaki ezisongela ubomi kunye nokuphucula umgangatho wobomi ngokulawula iimpawu. Okusebenza komnye umntu kusenokungasebenzi komnye, nokuba unesifo esifanayo.

Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?

Ewe, njengakuyo nayiphi na indlela yonyango, kukho iziphumo ebezingalindelekanga. Kubalulekile ukuxoxa ngazo nogqirha wakho ngaphambi kokuba uqale unyango. Oku kuya kukunceda uqonde iziphumo ebezingalindelekanga zonyango olufumanayo kunye noko ukulindeleyo.

Ngaba izifo ze-mitochondrial zingathintelwa?

Okwangoku akukho ndlela eyaziwayo yokuthintela isifo se-mitochondrial esibangelwa yimfuza. Nangona kunjalo, ukuba unesifo, ungaziphepha ezinye zezinto ezinokwenza iimpawu zakho zibe zimbi ngakumbi. Umzekelo:

• Ukuchanabeka kwingqele egqithisileyo kunye/okanye ubushushu.
• Ukutsiba ukutya.
• Ukungalali ngokwaneleyo.
• Uxinzelelo.

Ngamanye amaxesha ugqirha unokukucebisa ukuba wonge amandla akho. Oko kuthetha ukuba ungasebenzisi onke amandla akho ngexesha elifutshane.

Ungaphila ixesha elingakanani unesifo se-mitochondrial?

Ugqirha wakho angawuphendula kakuhle lo mbuzo. Oku kuxhomekeke kwiimpawu zakho, amalungu achaphazelekayo, kunye nempilo yakho ngokubanzi. Abanye abantwana kunye nabantu abadala baphila ubomi obuqhelekileyo, njengomntu ongenaso esi sifo. Kwabanye, impilo yabo inokutshintsha kakhulu kwixesha elifutshane. Kwabanye, iimpawu zinokuvela rhoqo ebomini babo. Nangona kungekho nyango lwezifo ze-mitochondrial, uphando luyaqhubeka ukuze kufunyanwe okungakumbi.

Ndifanele ndimbone nini ugqirha?

Ukuba iimpawu zakho zesifo se-mitochondrial zichaphazela imisebenzi yakho yemihla ngemihla kangangokuba awukwazi ukusebenza ngokuqhelekileyo, qiniseka ukuba ubona ugqirha. Ukuba ufumana iimpawu ezinzima, ezinje ngokuxhuzula okanye ubunzima bokuphefumla, fowunela u-911 okanye inombolo yakho yongxamiseko yasekuhlaleni ngoko nangoko.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ungabuza ugqirha wakho imibuzo efana nale:

• Loluphi uhlobo lwesifo se-mitochondrial esibangele iimpawu zam?
• Luhlobo luni lonyango olucetyiswayo?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?
• Ndifanele ndizithathe kangaphi iivithamini okanye izongezo?
• Luhlobo luni lokutya olucebisayo?
• Ndingawagcina njani amandla am?
• Ngaba kukho amaqela enkxaso kubantu abanezifo ze-mitochondrial?

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Ukufumanisa ukuba wena okanye umntu omthandayo unesifo se-mitochondrial kunokuba sisigqibo esinzima. Ngenxa yokuba esi sifo sinokuchaphazela iinkqubo ezininzi emzimbeni, kunokufuneka wenze utshintsho kwindlela ophila ngayo. Kodwa khumbula, awuwedwa. Ukongeza kwinkxaso yosapho lwakho nabahlobo, iqela lakho lezempilo linokukunceda uhambe kolu nyango kunye neendlela zonyango.

Nangona kungekho nyango lwesifo se-mitochondrial, unyango lunokunceda ukunciphisa iimpawu kunye nokucothisa ukuqhubela phambili kwesi sifo. Eyona nto ibalulekileyo kukuhlala unethemba, ulandele iingcebiso zikagqirha wakho, kwaye uphile ubomi bakho ngokupheleleyo.

Siyathemba ukuba olu lwazi luluncedo. Siza kubonana kwakhona ngolwazi olubalulekileyo lwezempilo olufana nolu!

I- Mitochondria, izifo ze-mitochondrial, izifo zemfuza, amandla eeseli, ukuveliswa kwamandla, iimpawu, unyango