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Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation
Author(s) -
Vilarinho L.,
Barbot C.,
Carrozzo R.,
Calado E.,
Tessa A.,
DionisiVici C.,
Guimarães A.,
Santorelli F. M.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1013908728445
Subject(s) - medicine
The 8993T>G (L156R) transversion in the mtDNA ATPase 6 gene is a common cause of maternally inherited Leigh syndrome (MILS; McKusick 516060). In vitro studies showed that L156R severely impairs ATP production by altering the proton channel of complex V (DiMauro and Schon 2001). A less common MILS mutation in the same gene (8993T>C; L156P) exhibits a milder phenotype and a remitting^relapsing clinical course, and shows no defective ATP synthesis. Its effects on cellular ATP output are generally unclear. We describe four new 8993T>C patients. In one case, we tested the effects of the mutation on energy production and mitochondrial membrane potential ðDcmÞ