Risk of brain injury in preterm babies influenced by genetic variants

Risk of brain injury in premature babies is modulated by common variation in genes associated with schizophrenia and fat metabolism, a new study suggests.

Study of single nucleotide polymorphisms alongside DTI studies including tract-based spatial statistics and deformation-based morphometry in brains of preterm infants showed that SNP in Armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF) gene linked to neuronal migration and schizophrenia and in fatty acid desaturase (FADS2) gene encoding rate limiting step in endogenous Polyunsaturated Fatty Acid PUFA synthesis and linked to intelligence was associated with white matter abnormalities.

ARVCF2 member of the catenin family modulates neural cell-cell adhesion and migration. It is richly expressed in the human ganglionic eminence in neurons that migrate from the granglionic eminence to the intermediate zone, the amygdaloid complex and the thalaus during fetal life.The authors have previously reported that volume and neuronal loss in the dorsomedial nucleus of the thalamus is associated with preterm birth.

The FADS2 gene encodes the rate limiting enzyme in endogenous production of the long chain polyunsaturated fatty acids (LC-PUFA) docosohexaeneoic acid and arachidonic acid. These long chain polyunsaturated fatty acids has been shown to accumulate in the brain in abundance from the third trimester to 18 months postpartum and are essential for neurogenesis, neurotransmission and protection from oxidative stress.

According to the authors these findings are consistent with recent research suggesting preterm infants have higher rates of neuropsychiatric illness in adult life.

The study, published in the journal Pediatrics, was funded by NIHR Imperial College Biomedical Research Centre.

Reference:

Boardman JP, Walley A, Ball G, Takousis P, Krishnan ML, Hughes-Carre L et al. (2014) Common Genetic Variants and Risk of Brain Injury After Preterm Birth.Pediatrics ():. DOI: 10.1542/peds.2013-3011 PMID:24819575.