The ‘common deletion’ is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction
- 1 September 1997
- journal article
- research article
- Published by Wiley in Movement Disorders
- Vol. 12 (5) , 639-645
- https://doi.org/10.1002/mds.870120504
Abstract
Previous studies have estimated levels of mitochondrial DNA (mtDNA) carrying the 4,977-base-pair 'common deletion' in tissues from patients with Parkinson's disease (PD) by using semiquantitative techniques. The role of this deleted mtDNA species in the pathogenesis of PD has remained controversial. We have applied competitive polymerase chain reaction to achieve exact quantitation of deleted mtDNA in the substantia nigra and additional brain regions of cases with neuropathologically confirmed Lewy-body parkinsonism, In addition, genotyping was carried out for CYP2D6G1,934A and CYP2D6C2,938Talleles and the mitochondrial ND2 (nucleotide 5,460) and transfer RNA for glutamine (nucleotide 4,336) sequence variants. Parkinsonian brains showed 1–3% deleted mtDNA in the substantia nigra, that is, deletion levels were not higher than in age-matched controls. Our findings suggest that the defect in complex I of the respiratory chain observed in PD is not primarily due to the ‘common deletion’.Keywords
This publication has 49 references indexed in Scilit:
- Accumulation of Deletions in MtDNA During Tissue Aging: Analysis by Long PCRBiochemical and Biophysical Research Communications, 1995
- Modelling the effects of age-related mtDNA mutation accumulation; Complex I deficiency, superoxide and cell deathBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995
- Correlation Between Mitochondrial DNA 4977-bp Deletion and Respiratory Chain Enzyme Activities in Aging Human Skeletal MusclesBiochemical and Biophysical Research Communications, 1994
- Occurrence of a Particular Base Substitution (3243 A to G) in Mitochondrial DNA of Tissues of Ageing HumansBiochemical and Biophysical Research Communications, 1993
- The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different agesFEBS Letters, 1993
- Quantitation of a mitochondrial DNA deletion in Parkinson's diseaseFEBS Letters, 1992
- Identification of the primary gene defect at the cytochrome P450 CYP2D locusNature, 1990
- Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysisBiochemical and Biophysical Research Communications, 1990
- Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescenceBiochemical and Biophysical Research Communications, 1990
- Deficiencies in Complex I subunits of the respiratory chain in Parkinson's diseaseBiochemical and Biophysical Research Communications, 1989