Number of the records: 1  

Nuclear genetic defects of mitochondrial ATP synthase

  1. 1.
    0320986 - FGÚ 2009 IT eng A - Abstract
    Houštěk, Josef - Kmoch, S. - Mayr, J. A. - Sperl, W. - Zeman, J.
    Nuclear genetic defects of mitochondrial ATP synthase.
    [Jaderné genetické defekty mitochondriální ATP synthasy.]
    Bari International Symposium on Mitochondrial Physiology and Pathology. Bari: University of Bari, 2008. L5.3-L5.3.
    [IUBMB Symposium S1. 22.06.2008-26.06.2008, Bari]
    R&D Projects: GA MŠMT(CZ) 1M0520
    Institutional research plan: CEZ:AV0Z50110509
    Keywords : spr2 * mitochondrial disease * ATP synthase defects * nuclear mutation
    Subject RIV: EB - Genetics ; Molecular Biology

    Isolated ATP synthase defects due to mutations in nuclear DNA, often lead to early death of newborns, because they have decreased levels of ATP synthase and thus insufficient ATP production. Only in one case the primary defect was found in ATP12 asembly protein, therefore gene analysis of 6 patients and their healthy kinsman was performed. This analysis showed mutation in a gene for 30 kDa protein, which is probably involved in ATP synthase biogenesis, since the protein deficiency was found in isolated defects of ATP synthase

    Izolované defekty ATP synthasy způsobené mutacemi v jaderné DNA často vedou k časnému úmrtí u novorozenců, jelikož u nich dochází ke snižování obsahu ATP synthasy a tím k nedostatečné tvorbě ATP. Pouze v 1 případě byl zjištěn primární defekt v genu pro asemblační faktor ATP12, proto byla u dalších 6 pacientů i u jejich zdravích příbuzných provedena genová analýza. Tato analýza odhalila mutaci v genu pro 30 kDa protein, který je nejspíše zahrnut do biogeneze ATP synthasy, jelikož deficience tohoto faktoru byla nalezena u isolovaných defektů ATP synthasy
    Permanent Link: http://hdl.handle.net/11104/0169691

     
     
Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.