Title: A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure
Authors: Meulemans, Ann ×
Seneca, Sara
Lagae, Lieven
Lissens, Willy
De Paepe, Boel
Smet, Joél
Van Coster, Rudy
De Meirleir, Linda #
Issue Date: Aug-2006
Publisher: American Medical Association
Series Title: Archives of Neurology vol:63 issue:8 pages:1194-1198
Abstract: BACKGROUND: Mitochondrial cytopathies are a heterogeneous group of disorders with a broad spectrum of clinical symptoms. OBJECTIVE: To characterize a novel mutation in the transfer RNA(Asn) (m.5728A>G) identified in a 13-year-old boy with multiorgan failure. DESIGN: Biochemical and immunocytochemical studies were performed in combination with transmitochondrial cybrid analysis. SETTING: A university hospital. Molecular and biochemical analyses were performed in collaboration between 2 other university hospitals. PATIENT: Thirteen-year-old boy with multiorgan failure. RESULTS: In the patient's muscle tissue and cultured skin fibroblasts, a combined deficiency of complexes I and IV was found, using spectrophotometric analysis and activity staining in the gel following blue native polyacrylamide gel electrophoresis. An identical biochemical profile was seen in transmitochondrial cybrids carrying more than 55% mutant mitochondrial DNA. CONCLUSION: These data suggest that the m.5728A>G transition is a pathogenic mutation and is the cause of the respiratory chain dysfunction in the propositus.
ISSN: 0003-9942
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Brain & Metabolism Section (-)
Department of Health and Technology - UC Leuven
Clinical and Experimental Endocrinology
× corresponding author
# (joint) last author

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