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

Carlos T Moraes, Sara Shanske, Hans Jürgen Tritschler, June R. Aprille, Francesca Andreetta, Eduardo Bonilla, Eric A. Schon, Salvatore DiMauro

Research output: Contribution to journalArticle

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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
Pages (from-to)492-501
Number of pages10
JournalAmerican Journal of Human Genetics
Volume48
Issue number3
StatePublished - Mar 1 1991
Externally publishedYes

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Mitochondrial Diseases
Mitochondrial DNA
Muscles
Muscular Diseases
Replication Origin
Electron Transport
Biochemistry
In Situ Hybridization
Sequence Analysis
Immunohistochemistry
Kidney
Liver
Proteins

ASJC Scopus subject areas

  • Genetics

Cite this

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

mtDNA depletion with variable tissue expression : A novel genetic abnormality in mitochondrial diseases. / Moraes, Carlos T; Shanske, Sara; Tritschler, Hans Jürgen; Aprille, June R.; Andreetta, Francesca; Bonilla, Eduardo; Schon, Eric A.; DiMauro, Salvatore.

In: American Journal of Human Genetics, Vol. 48, No. 3, 01.03.1991, p. 492-501.

Research output: Contribution to journalArticle

Moraes, CT, Shanske, S, Tritschler, HJ, Aprille, JR, Andreetta, F, Bonilla, E, Schon, EA & DiMauro, S 1991, 'mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases', American Journal of Human Genetics, vol. 48, no. 3, pp. 492-501.
Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E et al. mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases. American Journal of Human Genetics. 1991 Mar 1;48(3):492-501.
Moraes, Carlos T ; Shanske, Sara ; Tritschler, Hans Jürgen ; Aprille, June R. ; Andreetta, Francesca ; Bonilla, Eduardo ; Schon, Eric A. ; DiMauro, Salvatore. / mtDNA depletion with variable tissue expression : A novel genetic abnormality in mitochondrial diseases. In: American Journal of Human Genetics. 1991 ; Vol. 48, No. 3. pp. 492-501.
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