Mitochondrial DNA (mtDNA) deletion affecting 4977 base pairs (mtDNA4977), the most common mtDNA mutation in humans, was analysed in brain specimens (frontal, temporal, and cerebellar cortices, caudate nucleus, thalamus, and hippocampus) and in other tissues (blood clot, liver, kidney, heart, and muscle) taken at autopsy of deceased neonates. mtDNA4977 deletion determined by polymerase chain reaction (PCR) could be demonstrated in each neonatal sample, however, quantity of mtDNA4977 deletion was less in the newborn samples than in those of the elderlies. Results obtained suggest that contrary to certain data mtDNA4977 deletion can be present in neonates. The mtDNA4977 deletion could be generated by perinatal hypoxia or temporary oxygen oversaturations during the intensive care of the neonates, as the mtDNA is sensitive to oxidative damage. In combination with other factors an additional causative role of mtDNA4977 deletion reported here cannot be ruled out in development of cerebral palsy or mental retardation of unknown origin often seen in neonates underwent neonatal intensive care procedures.
Ames, B. N., Shigenaga, M. K., Hagen, T. M. (1995) Mitochondrial decay in aging. Biochim. Biophys. Acta 1271, 165-170.
'Mitochondrial decay in aging ' () 1271 Biochim. Biophys. Acta : 31 -170 .
McKee, A. C., Beal, M. F., Graham, B. H., Wallace, D. C. (1994) Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics 23, 471-476.
'Marked changes in mitochondrial DNA deletion levels in Alzheimer brains ' () 23 Genomics : 31 -476 .
Méhes, K., Bajnóczky, K., Adamovich, K., Khezri, S., Kosztolányi, G. (1999) No latent chromosome damage in oxygen-exposed premature neonates. J. Hum. Genet. 44, 40-42.
'No latent chromosome damage in oxygen-exposed premature neonates ' () 44 J. Hum. Genet. : 31 -42 .
Erikkson, P. S., Perilieva, E., Björk-Erikkson, T., Alborn, A.-M., Nordborg, C., Peterson, D. A., Gage, F. H. (1998) Neurogenesis in the adult human hippocampus. Nat. Med. 4, 1313-1317.
'Neurogenesis in the adult human hippocampus ' () 4 Nat. Med. : 31 -1317 .
Lightowlers, R. N., Jacobs, H. T., Kajander, O. A. (1999) Mitochondrial DNA - all things bad? Trends Genet. 15, 91-93.
'Mitochondrial DNA - all things bad? ' () 15 Trends Genet. : 31 -93 .
8. MacLennan, A. for the International Cerebral Palsy Task Force (1999) A template for defining a casual relation between acute intrapartum events and cerebral palsy: international consensus statement. BMJ 319, 1054-1059.
Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., Beal, M. F., Wallace, D. C. (1992) Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nat. Genet. 2, 324-329.
'Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age ' () 2 Nat. Genet. : 31 -329 .
Cortopassi, G., Shibata, D., Soong, N. W., Arnheim, N. (1992) A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Proc. Natl. Acad. Sci. USA 89, 7370-7374.
'A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues ' () 89 Proc. Natl. Acad. Sci. USA : 31 -7374 .
Meisser, C., von Wurmb, N. (1998) Sensitive Detection of the 4977-bp Deletion in human mitochondrial DNA of young individuals. BioTechniques 25, 652-654.
'Sensitive Detection of the 4977-bp Deletion in human mitochondrial DNA of young individuals ' () 25 BioTechniques : 31 -654 .
Nagley, P., Wei, Y. H. (1998) Ageing and mitochondrial genetics. Trends Genet. 14, 1-5.
'Ageing and mitochondrial genetics ' () 14 Trends Genet. : 31 -5 .
Seress, L. (2001) Morphological changes in the human hippocampal formation from midgestation to early childhood. In: Nelson, C. A. and Luciana, M. (eds) Handbook of Developmental Cognitive Neuroscience. MIT Press, Cambridge-London, pp. 45-58.
Handbook of Developmental Cognitive Neuroscience , () 45 -58 .
Shenkar, R., Navidi, W., Tavaré, S., Dang, M. H., Chomyn, A., Attarfi, G., Cortopassi, G., Arnheim, N. (1996) The mutation rate of the human mtDNA deletion mtDNA4977. Am. J. Hum. Gene. 59, 772-780.
'The mutation rate of the human mtDNA deletion mtDNA4977 ' () 59 Am. J. Hum. Gene. : 31 -780 .
Simonetti, S., Chen, X., DiMauro, S., Schon, E. A. (1992) Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR. Biochim. Biophys. Acta 1180, 113-122.
'Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR ' () 1180 Biochim. Biophys. Acta : 31 -122 .
Soong, N. W., Arnheim, N. (1995) Quantitative PCR: analysis of rare mitochondrial DNA mutations in central nervous system tissues. Methods in Neurosciences 26, 105-127.
'Quantitative PCR: analysis of rare mitochondrial DNA mutations in central nervous system tissues ' () 26 Methods in Neurosciences : 31 -127 .
Soong, N. W., Hinton, D. R., Cortopassi, G., Arnheim, N. (1992) Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain. Nat. Genet. 2, 318-323.
'Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain ' () 2 Nat. Genet. : 31 -323 .
Stepien, G., Shoffner, J. M., Lott, M. T., Kanter, K., Wallace, D. C. (1991) Hypoxaemia is associated with mitochondrial DNA damage and gene induction. JAMA 266, 1812-1816.
'Hypoxaemia is associated with mitochondrial DNA damage and gene induction ' () 266 JAMA : 31 -1816 .
Stromme, P., Hagberg, G. (2000) Aetiology in severe and mild mental retardation: a population-based study of Norwegian children. Dev. Med. Child Neurol. 42, 76-86.
'Aetiology in severe and mild mental retardation: a population-based study of Norwegian children ' () 42 Dev. Med. Child Neurol. : 31 -86 .
Takeda, N., Tanamura, A., Iwai, T., Nakamura, I., Kato, M., Ohkubo, T., Noma, K. (1993) Mitochondrial DNA deletion in human myocardium. Mol. Cell. 119, 105-108.
'Mitochondrial DNA deletion in human myocardium ' () 119 Mol. Cell. : 31 -108 .
Veelken, B. N., Schopf, M., Dammann, O., Schulte, F. J. (1993) Etiological classification of cerebral palsy in very low birthweight infants. Neuropediatrics 24, 74-76.
'Etiological classification of cerebral palsy in very low birthweight infants ' () 24 Neuropediatrics : 31 -76 .
Wallace, D. C., Shoffner, J. M., Trounce, I., Brown, M. D., Ballinger, S. W., Corral-Debrinski, M., Horton, T., Jun, A. S., Lott, M. T. (1995) Mitochondrial DNA mutations in human degenerative diseases and aging. Biochim. Biophys. Acta 1271, 141-151.
'Mitochondrial DNA mutations in human degenerative diseases and aging ' () 1271 Biochim. Biophys. Acta : 31 -151 .
Yang, J. H., Lee, H. C., Lin, K. J., Wei, Y. H. (1994) A specific 4977-bp deletion of mitochondrial DNA in human aging skin. Arch. Dermatol. Res. 286, 386-390.
'A specific 4977-bp deletion of mitochondrial DNA in human aging skin ' () 286 Arch. Dermatol. Res. : 31 -390 .
Calloway, C. D., Reynolds, R. L., Herrin, G. L., Abderson, W. W. (2000) The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age. Am. J. Hum. Genet. 66, 1384-1397.
'The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age ' () 66 Am. J. Hum. Genet. : 31 -1397 .
Chinnery, P. F., Zwijnenburg, P. J. G., Walker, M., Howell, N., Taylor, R. W., Lightowlers, R. N., Bindoff, L., Turnbull, D. M. (1999) Nonrandom tissue distribution of mutant mtDNA. Am. J. Med. Genet. 85, 498-501.
'Nonrandom tissue distribution of mutant mtDNA ' () 85 Am. J. Med. Genet. : 31 -501 .