Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome

Carlos T. Moraes; Eric A. Schon; Salvatore DiMauro; Armand F. Miranda

doi:10.1016/0006-291X(89)92499-6

Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome

Carlos T. Moraes, Eric A. Schon, Salvatore DiMauro, Armand F. Miranda

Research output: Contribution to journal › Article › peer-review

80 Scopus citations

Abstract

We have analyzed heteroplasmy of mitochondrial DNA in clonal cultures from two patients with Kearns-Sayre syndrome, and have found that individual muscle or fibroblast clones contained either a mixed (i.e. heteroplasmic) population of normal and deleted mitochondrial DNAs, or only normal mitochondrial DNAs (i.e. homoplasmic at a level of detection of <1% deleted genomes). The heteroplasmic clones grew significantly more slowly than did "homoplasmic" clones, probably due to defects of respiratory chain enzymes containing mtDNA-encoded polypeptides.

Original language	English (US)
Pages (from-to)	765-771
Number of pages	7
Journal	Biochemical and biophysical research communications
Volume	160
Issue number	2
DOIs	https://doi.org/10.1016/0006-291X(89)92499-6
State	Published - Apr 28 1989
Externally published	Yes

ASJC Scopus subject areas

Biophysics
Biochemistry
Molecular Biology
Cell Biology

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title = "Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome",

abstract = "We have analyzed heteroplasmy of mitochondrial DNA in clonal cultures from two patients with Kearns-Sayre syndrome, and have found that individual muscle or fibroblast clones contained either a mixed (i.e. heteroplasmic) population of normal and deleted mitochondrial DNAs, or only normal mitochondrial DNAs (i.e. homoplasmic at a level of detection of <1% deleted genomes). The heteroplasmic clones grew significantly more slowly than did {"}homoplasmic{"} clones, probably due to defects of respiratory chain enzymes containing mtDNA-encoded polypeptides.",

author = "Moraes, {Carlos T.} and Schon, {Eric A.} and Salvatore DiMauro and Miranda, {Armand F.}",

note = "Funding Information: This work was supported by Association and by a donation C.T.M. is supported by the Brazilian Grants from NINCDS, the from Mr. and Mrs. Libero Research Council (CNPq).",

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doi = "10.1016/0006-291X(89)92499-6",

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T1 - Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome

AU - Moraes, Carlos T.

AU - Schon, Eric A.

AU - DiMauro, Salvatore

AU - Miranda, Armand F.

N1 - Funding Information: This work was supported by Association and by a donation C.T.M. is supported by the Brazilian Grants from NINCDS, the from Mr. and Mrs. Libero Research Council (CNPq).

PY - 1989/4/28

Y1 - 1989/4/28

N2 - We have analyzed heteroplasmy of mitochondrial DNA in clonal cultures from two patients with Kearns-Sayre syndrome, and have found that individual muscle or fibroblast clones contained either a mixed (i.e. heteroplasmic) population of normal and deleted mitochondrial DNAs, or only normal mitochondrial DNAs (i.e. homoplasmic at a level of detection of <1% deleted genomes). The heteroplasmic clones grew significantly more slowly than did "homoplasmic" clones, probably due to defects of respiratory chain enzymes containing mtDNA-encoded polypeptides.

AB - We have analyzed heteroplasmy of mitochondrial DNA in clonal cultures from two patients with Kearns-Sayre syndrome, and have found that individual muscle or fibroblast clones contained either a mixed (i.e. heteroplasmic) population of normal and deleted mitochondrial DNAs, or only normal mitochondrial DNAs (i.e. homoplasmic at a level of detection of <1% deleted genomes). The heteroplasmic clones grew significantly more slowly than did "homoplasmic" clones, probably due to defects of respiratory chain enzymes containing mtDNA-encoded polypeptides.

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Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome

Abstract

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