Abstract
We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial transfer RNA Histidine (tRNA(His)) gene in three related patients. These phenotypes varied according to mutation heteroplasmy: one had severe pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, and ataxia; the other two had only retinal and inner ear involvement. The mutation is in a highly conserved region of the T(psi)C stem of the tRNA(His) gene and may alter secondary structure formation. This is the first described pathogenic, maternally inherited mutation of the mitochondrial tRNA(His) gene.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Ataxia / complications
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Ataxia / genetics
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Base Sequence
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Cataract / complications
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Cataract / genetics
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Conserved Sequence
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DNA Mutational Analysis
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Disease Progression
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Female
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Hearing Loss, Sensorineural / complications
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Hearing Loss, Sensorineural / genetics*
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Humans
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Male
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Middle Aged
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Mitochondria / genetics*
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Molecular Sequence Data
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Muscle Fibers, Fast-Twitch / pathology
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Muscular Diseases / complications
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Muscular Diseases / genetics
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Mutation*
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Nucleic Acid Conformation
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Phenotype
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RNA, Transfer, His / genetics*
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Retinitis Pigmentosa / complications
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Retinitis Pigmentosa / genetics*
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Siblings
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Testicular Diseases / complications
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Testicular Diseases / genetics