Abstract
Mitochondrial encephalomyopathies are highly variable clinically and at the genetic level. In practice, when the mitochondrial DNA (mtDNA) of any mitochondrial-patient is sequenced, a very high number of variations are noted. The vast majority of these differences are simply polymorphisms, that is, non-pathologic, homoplasmic sequence variations; however, when a heteroplasmic variant is detected (co-existence of two different populations in the same tissue) this is clinically significant. We identified two different heteroplasmic mutations in the mtDNA of two subjects: G4298A in the tRNAAla (Alanine) gene and T10010C in the tRNAGly (Glycine), both of which have been reported previously. This work confirms the pathogenicity of these mutations and helps define the correlation between genotype and phenotype.
| Original language | English |
|---|---|
| Pages (from-to) | 279-283 |
| Number of pages | 5 |
| Journal | Mitochondrion |
| Volume | 3 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - Apr 2004 |
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Keywords
- Encephalomyopathy and point mutation
- Mitochondrial (mt)DNA
- tRNA gene
ASJC Scopus subject areas
- Biophysics
Cite this
Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations : The confirmation in two new cases. / Crimi, Marco; Galbiati, Sara; Sciacco, Monica; Bordoni, Andreina; Natali, Maria Grazia; Raimondi, Monica; Bresolin, Nereo; Comi, Giacomo Pietro.
In: Mitochondrion, Vol. 3, No. 5, 04.2004, p. 279-283.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations
T2 - The confirmation in two new cases
AU - Crimi, Marco
AU - Galbiati, Sara
AU - Sciacco, Monica
AU - Bordoni, Andreina
AU - Natali, Maria Grazia
AU - Raimondi, Monica
AU - Bresolin, Nereo
AU - Comi, Giacomo Pietro
PY - 2004/4
Y1 - 2004/4
N2 - Mitochondrial encephalomyopathies are highly variable clinically and at the genetic level. In practice, when the mitochondrial DNA (mtDNA) of any mitochondrial-patient is sequenced, a very high number of variations are noted. The vast majority of these differences are simply polymorphisms, that is, non-pathologic, homoplasmic sequence variations; however, when a heteroplasmic variant is detected (co-existence of two different populations in the same tissue) this is clinically significant. We identified two different heteroplasmic mutations in the mtDNA of two subjects: G4298A in the tRNAAla (Alanine) gene and T10010C in the tRNAGly (Glycine), both of which have been reported previously. This work confirms the pathogenicity of these mutations and helps define the correlation between genotype and phenotype.
AB - Mitochondrial encephalomyopathies are highly variable clinically and at the genetic level. In practice, when the mitochondrial DNA (mtDNA) of any mitochondrial-patient is sequenced, a very high number of variations are noted. The vast majority of these differences are simply polymorphisms, that is, non-pathologic, homoplasmic sequence variations; however, when a heteroplasmic variant is detected (co-existence of two different populations in the same tissue) this is clinically significant. We identified two different heteroplasmic mutations in the mtDNA of two subjects: G4298A in the tRNAAla (Alanine) gene and T10010C in the tRNAGly (Glycine), both of which have been reported previously. This work confirms the pathogenicity of these mutations and helps define the correlation between genotype and phenotype.
KW - Encephalomyopathy and point mutation
KW - Mitochondrial (mt)DNA
KW - tRNA gene
UR - http://www.scopus.com/inward/record.url?scp=1842558433&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=1842558433&partnerID=8YFLogxK
U2 - 10.1016/j.mito.2004.02.004
DO - 10.1016/j.mito.2004.02.004
M3 - Article
C2 - 16120360
AN - SCOPUS:1842558433
VL - 3
SP - 279
EP - 283
JO - Mitochondrion
JF - Mitochondrion
SN - 1567-7249
IS - 5
ER -