mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases

C. T. Moraes, S. Shanske, H. J. Tritschler, J. R. Aprille, F. Andreetta, E. Bonilla, E. A. Schon, S. DiMauro

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Abstract

We studied two related infants with a fatal mitochondrial disease, affecting muscle in one and liver in the other. Quantitative analysis revealed a severe depletion of mtDNA in affected tissues. This genetic abnormality was also observed in muscle of an unrelated infant with myopathy and in muscle and kidney of a fourth child with myopathy and nephropathy. Biochemistry, immunohistochemistry, and in situ hybridization showed that the depletion of mtDNA in muscle fibers was correlated with a respiratory chain defect and with lack of mitochondrially translated proteins. Although the differential tissue involvement in these infants suggests mtDNA heteroplasmy, sequence analysis of mtDNA replication origins did not reveal any abnormality that could account for the low copy number.

Original languageEnglish (US)
Pages (from-to)492-501
Number of pages10
JournalAmerican journal of human genetics
Volume48
Issue number3
StatePublished - Mar 27 1991

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Moraes, C. T., Shanske, S., Tritschler, H. J., Aprille, J. R., Andreetta, F., Bonilla, E., Schon, E. A., & DiMauro, S. (1991). mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases. American journal of human genetics, 48(3), 492-501.