Abstract
We report a novel 14724G>A mutation in the mitochondrial tRNA glutamic acid gene in a 4-year-old boy with myopathy and leukoencephalopathy. A muscle biopsy showed cytochrome c oxidase-negative ragged-red fibers and biochemical analysis of the respiratory chain enzymes in muscle homogenate revealed partial complex I and complex IV deficiencies. The mutation, which affects the dihydrouridine arm at a conserved site, was nearly homoplasmic in muscle and heteroplasmic in blood DNA of the proband, but it was absent in peripheral leukocytes from the asymptomatic mother, sister, and two maternal aunts, suggesting that it arose de novo. This report proposes to look for variants in the mitochondrial genome when dealing with otherwise undetermined leukodystrophies of childhood.
| Original language | English |
|---|---|
| Pages (from-to) | 937-941 |
| Number of pages | 5 |
| Journal | Biochemical and Biophysical Research Communications |
| Volume | 354 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Mar 23 2007 |
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Keywords
- mtDNA
- Mutation
- Transfer RNA
ASJC Scopus subject areas
- Biochemistry
- Biophysics
- Molecular Biology
Cite this
Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy. / Pereira, Cristina; Nogueira, Celia; Barbot, Clara; Tessa, Alessandra; Soares, Carla; Fattori, Fabiana; Guimarães, António; Santorelli, Filippo M.; Vilarinho, Laura.
In: Biochemical and Biophysical Research Communications, Vol. 354, No. 4, 23.03.2007, p. 937-941.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy
AU - Pereira, Cristina
AU - Nogueira, Celia
AU - Barbot, Clara
AU - Tessa, Alessandra
AU - Soares, Carla
AU - Fattori, Fabiana
AU - Guimarães, António
AU - Santorelli, Filippo M.
AU - Vilarinho, Laura
PY - 2007/3/23
Y1 - 2007/3/23
N2 - We report a novel 14724G>A mutation in the mitochondrial tRNA glutamic acid gene in a 4-year-old boy with myopathy and leukoencephalopathy. A muscle biopsy showed cytochrome c oxidase-negative ragged-red fibers and biochemical analysis of the respiratory chain enzymes in muscle homogenate revealed partial complex I and complex IV deficiencies. The mutation, which affects the dihydrouridine arm at a conserved site, was nearly homoplasmic in muscle and heteroplasmic in blood DNA of the proband, but it was absent in peripheral leukocytes from the asymptomatic mother, sister, and two maternal aunts, suggesting that it arose de novo. This report proposes to look for variants in the mitochondrial genome when dealing with otherwise undetermined leukodystrophies of childhood.
AB - We report a novel 14724G>A mutation in the mitochondrial tRNA glutamic acid gene in a 4-year-old boy with myopathy and leukoencephalopathy. A muscle biopsy showed cytochrome c oxidase-negative ragged-red fibers and biochemical analysis of the respiratory chain enzymes in muscle homogenate revealed partial complex I and complex IV deficiencies. The mutation, which affects the dihydrouridine arm at a conserved site, was nearly homoplasmic in muscle and heteroplasmic in blood DNA of the proband, but it was absent in peripheral leukocytes from the asymptomatic mother, sister, and two maternal aunts, suggesting that it arose de novo. This report proposes to look for variants in the mitochondrial genome when dealing with otherwise undetermined leukodystrophies of childhood.
KW - mtDNA
KW - Mutation
KW - Transfer RNA
UR - http://www.scopus.com/inward/record.url?scp=33846817270&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33846817270&partnerID=8YFLogxK
U2 - 10.1016/j.bbrc.2007.01.068
DO - 10.1016/j.bbrc.2007.01.068
M3 - Article
VL - 354
SP - 937
EP - 941
JO - Biochemical and Biophysical Research Communications
JF - Biochemical and Biophysical Research Communications
SN - 0006-291X
IS - 4
ER -