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2007•Journal of Zhengzhou UniversityRequires access

Anticipation in Leber′s hereditary optic neuropathy

Xiaofeng Meng

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Abstract

Aim: To observe the relationship between anticipation in Leber's hereditary optic neuropathy (LHON) pedigrees and mutations of mitochondrial DNA(mtDNA) in LHON pedigrees. Methods:Five LHON pedigrees were studied, only 31 maternal members from three LHON pedigrees were performed mtDNA analyses for primary mutation at np11778 and secondary mutation at np13730, np13708,np15257 by DNA sequencing. A total of 40 healthy individuals were used as control. Results: The age of onset was younger than that of parental generation in four LHON pedigrees. DNA sequencing revealed np11778G to A in all samples of the experiment group. No mutation was found at np13730,np13708, or np15257, but mutation was first found at np11719 and np15326. Conclusion: There is anticipation in LHON, which is not associated with the mutated sites.

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What this paper is about

Aim: To observe the relationship between anticipation in Leber's hereditary optic neuropathy (LHON) pedigrees and mutations of mitochondrial DNA(mtDNA) in LHON pedigrees. Methods:Five LHON pedigrees were studied, only 31 maternal members from three LHON pedigrees were performed mtDNA analyses for primary mutation at np11778 and secondary mutation at np13730, np13708,np15257 by DNA sequencing. A total of 40 healthy individuals were used as control. Results: The age of onset was younger than that of parental generation in four LHON pedigrees. DNA sequencing revealed np11778G to A in all samples of the experiment group. No mutation was found at np13730,np13708, or np15257, but mutation was first found at np11719 and np15326. Conclusion: There is anticipation in LHON, which is not associated with the mutated sites.

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Available abstract

Aim: To observe the relationship between anticipation in Leber's hereditary optic neuropathy (LHON) pedigrees and mutations of mitochondrial DNA(mtDNA) in LHON pedigrees. Methods:Five LHON pedigrees were studied, only 31 maternal members from three LHON pedigrees were performed mtDNA analyses for primary mutation at np11778 and secondary mutation at np13730, np13708,np15257 by DNA sequencing. A total of 40 healthy individuals were used as control. Results: The age of onset was younger than that of parental generation in four LHON pedigrees. DNA sequencing revealed np11778G to A in all samples of the experiment group. No mutation was found at np13730,np13708, or np15257, but mutation was first found at np11719 and np15326. Conclusion: There is anticipation in LHON, which is not associated with the mutated sites.

Key concepts: Pedigree chart, Anticipation (artificial intelligence), Leber's hereditary optic neuropathy, Mitochondrial DNA, Genetics, Mutation, Optic neuropathy, Biology

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