[Mitochondrial DNA deletions in newborn brain samples].
BACKGROUND
Mitochondrial DNA deletion affecting 4977 base pairs (mtDNA4977) thought to be the most common somatic mutation in man was analysed in samples taken from various parts of the brains at autopsy in order to analyse the supposition whether this mitochondrial damage may play a role in the causation of neurological dysfunction in childhood.


METHODS
DNA was isolated from the samples of 15 newborns and 8 adults taken during autopsy. mtDNA4977 deletion was determined by polymerase chain reaction.


RESULTS
mtDNA4977 could be demonstrated not only in adults but also in every newborn sample. Estimation of the amount of mtDNA4977 indicated that the level of mtDNA4977 was smaller in the newborn samples than in the elderly's.


CONCLUSIONS
Results suggest that mtDNA4977, contrary to the generally accepted opinion stating that it is acquired during life span, may already be present in the beginning of life. However, the possibility can not be excluded that mutations in the extreme sensitive mtDNA against oxidative damage might be generated by perinatal hypoxia and intensive care. Such a causative role of mtDNA mutations may be an important additional factor in explaining the pathomechanism of cerebral palsy and mental retardation frequently observed in surviving children.
Nádasi
Edit
E
Pécsi Tudományegyetem, Orvos- és Egészségtudományi Centrum, Orvosi Genetikai és Gyermekfejlodéstani Intézet.
Melegh
Béla
B
Seress
László
L
Kosztolányi
György
G
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001344:Autopsy; D001921:Brain / Q000648:ultrastructure*; D002547:Cerebral Palsy / Q000235:genetics; D004272:DNA, Mitochondrial; D005260:Female; D017353:Gene Deletion; D006801:Humans; D002534:Hypoxia, Brain / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction
D004272:DNA, Mitochondrial