Mitochondriální poruchy; Co jsou mitochondrie (typy epilepsie)

2. srpna 2009 v 23:46 | Tuška |  Epilepsie
Mitochondriální poruchy

Mitochondrie jsou součásti buněk, které jsou spojeny s metabolismem a produkcí enzymů.
Jsou "továrnami na energii" pro naše buňky. Také navíc obsahují genetický materiál.


Specifické abnormality na mitochondriálních genech jsou často spojené s epileptickou poruchou.

Metabolické poruchy způsobené mitochondriemi postihují různé části těla, včetně svalů a mozku.
Mitochondrie jsou děděné přes matku.

S epileptickými záchvaty jsou často spojené dvě mitochondriální poruchy:

MELAS

Jedna je MELAS:
mitochondriální myopatie, encefalopatie, lactic acidóza (příliš mnoho kyseliny mléčné v krvi) a příhody podobné mrtvici.

MELAS může vést k něčemu jako je mrtvice v mladém věku (obvykle před 40. rokem), k záchvatům, demenci, bolestem hlavy, zvracení, k poruše rovnováhy a ke škodlivým následkům tělesného pohybu, cvičení???.
Osoby s MELAS mohou mít jak generalizované záchvaty (včetně myoklonických a tonicko-klonických), tak parciální záchvaty.

MERRF

Další mitochondriální porucha s epileptickými záchvaty je MERRF:
myoklonická epilepsie s drsnými (rozeklanými?) červenými svalovými vlákny.

MERRF je jedna z progresívních myoklonických epilepsií. Může být také spojena se ztrátou sluchu, poruchou rovnováhy, demencí a se škodlivými následky tělesného pohybu (cvičení)???.

Kromě myoklonických záchvatů mají pacienti s MERF často generalizované tonicko-klonické záchvaty, které bývají kontrolovatelné standardními léky.

Existují také některé mitochondriální poruchy, které nezapadají přímo do MELAS nebo MERF syndromů, ale které mohou zapříčinit epilepsii a další neurologické problémy.



Co jsou mitochondrie?

Mitochondrie jsou struktury, které nalezneme v podstatě uvnitř každé buňky.
Z 250 typů buněk v těle neobsahují mitochondrie pouze zralé červené krvinky.

Každá buňka může mít tisíce mitochondrií, nebo naopak málo např. jen dvě. Záleží to na typu buňky a její energetické potřebě.

Název "mitochondrie" znamená "nitkovitý, vláknovitý" a pochází ze způsobu, jak tyto struktury většinou vypadají pod mikroskopem.
Mitochondrie mohou mít různé tvary, které jsou však charakteristické pro konkrétní typ buňky, kde se vyskytují.

Každá mitochondrie má jakousi vnější a vnitřní membránu. Uvnitř každé membrány jsou uloženy specifické proteiny (bílkoviny), které vykonávají určité (charakteristické) činnosti (funkce) potřebné (nutné) pro buněčnou energii a metabolismus.
Mnoho funkcí mitochondrií je spojeno se speciálním typem buňky, ve které se nalézá.

Mitochondrie obsahuje svou vlastní DNA, specifickou od DNA buněčného jádra.
Mitochondriální DNA je malá a kruhová (cirkulární), ne přímá (lineární) jako u DNA jádra.
Což se přesně podobá DNA bakterií.
Každá mitochondrie obsahuje mnohočetné kopie DNA, takže mohou být stále znovu kombinovány (vázány) rozličnými způsoby.

Příště: Funkce mitochondrií; Rozpoznání mitochondriálního onemocnění, ...




 

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