De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring |
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| Authors: | Már H Tulinius Massoud Houshmand Nils-Göran Larsson Elisabeth Holme Anders Oldfors Eva Holmberg Jan Wahlström |
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| Institution: | (1) Department of Pediatrics, Göteborg University, East Hospital, S-416 85 Göteborg, Sweden;(2) Department of Clinical Chemistry, Göteborg University, Sahlgren's Hospital, S-413 45 Göteborg, Sweden;(3) Department of Pathology, Göteborg University, Sahlgren's Hospital, S-413 45 Göteborg, Sweden;(4) Department of Clinical Genetics, Umeå University Hospital, S-901 85 Umeå, Sweden;(5) Department of Clinical Genetics, Göteborg University, East Hospital, S-416 85 Göteborg, Sweden |
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| Abstract: | The mutation in the mitochondrial ATP synthase subunit 6 gene (ATP6 T8993G) was identified in a male infant who died at age 15 months of Leigh syndrome. He had 94% mutated mitochondrial DNA (mtDNA) in muscle and 92% in lymphocytes. His mother was healthy but had 37% mutated mtDNA in muscle and 38% in lymphocytes. The proband's brother, who was also healthy, had 44% mutated mtDNA in lymphocytes. No mutated mtDNA was detected in muscle and lymphocytes from the maternal grandmother of the proband or in lymphocytes from 15 other maternal relatives, showing that the first carrier of the ATP6 T8993G mutation in this family was the mother of the proband. This study shows that this point mutation may occur at substantial levels in a carrier of a de novo mutation and rapid segregation with high levels of mutated mtDNA causing neurodegenerative disease may occur in the second generation. |
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