Mutations in mitochondrial transfer ribonucleic acid genes in preeclampsia.
OBJECTIVE
We investigated whether maternally inherited mitochondrial deoxyribonucleic acid mutations could be associated with preeclampsia because mendelian models fail to explain all the aspects of inheritance in preeclampsia.


METHODS
In two families with a high occurrence of preeclampsia and eclampsia the 22 mitochondrial transfer ribonucleic acid genes were sequenced in eight and three women, respectively.


RESULTS
An A-to-G mutation in transfer ribonucleic acidleu[UUR] at nucleotide 3243 was found in one family, and in the other there was an A-to-G mutation at nucleotide 12308 in transfer ribonucleic acidleu[CUN]. Mutations of mitochondrial transfer ribonucleic acid genes are generally considered to have systemic consequences, which might explain the multiorgan involvement seen in preeclampsia.


CONCLUSIONS
We report for the first time mutations in mitochondrial transfer ribonucleic acid genes in two families with a high occurrence of preeclampsia and eclampsia. Mitochondrial dysfunction caused by point mutations of mitochondrial deoxyribonucleic acid is maternally inherited, but in the case of mutations of nuclear genes mitochondrial dysfunction can be inherited as an autosomal recessive or dominant trait.
Folgerø
T
T
Department of Obstetrics and Gynecology, University of Tromsø, Norway.
Storbakk
N
N
Torbergsen
T
T
Oian
P
P
D001483:Base Sequence; D005260:Female; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011225:Pre-Eclampsia / Q000235:genetics*; D011247:Pregnancy; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012343:RNA, Transfer / Q000235:genetics*
D000077278:RNA, Mitochondrial; D012313:RNA; D012343:RNA, Transfer