Now aged seven, his parents, Matthew and Lisa, were told he had cerebral palsy but found out when he was five that his symptoms were caused by a very rare genetic condition called GRIN2A
For the current study, published in Psychiatric Genetics, the DNA sequences of over 4,000 people with schizophrenia and 5,000 controls were used to study variants in the three genes which code for NMDAR (GRIN1, GRIN2A
and GRIN2B) and a fourth (FYN), for a protein called Fyn which controls NMDAR functioning.
CalbindinD28k, NM_031984.1, UPL Probe #128 (Roche 04693647001); Parvalbumin, NM_022499.1, UPL Probe #49 (Roche 04688104001); Grin1 NM_001270602.1 UPL Probe #69 (Roche 04688686001); Grin2a
NM_012573.3 UPL Probe #66 (Roche 04688651001); Grin2b NM_012574.1 UPL Probe # 29 (Roche 04687612001); Grin2c NM_012575.3 UPL Probe #106 (Roche 04692250001); Grin2d NM_022797.1 UPL Probe #4 (Roche 04685016001); Grin3a NM_001198583.1 UPL Probe #105 (Roche 04692241001) CACNA1C, NM_012517.2, UPL Probe #73 (Roche 04688961001); CACNA1D, NM_017298.1, UPL Probe #82 (Roche 04689054001).
In 3 samples, they observed some mutations in EUS-FNA specimens (in GRIN2A
, GATA3, GNAS, and KDM6A genes) but not in the surgical specimens: all discordant mutations had a percentage of mutated alleles lower than 14% and were therefore consistent with subclonal molecular events.
Sykes et al., "Candidategene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A
and ABAT," American Journal of Human Genetics, vol.
COL3A1, MMP9, CAMK2A, CD44, HTR2A, SV2B, GRIN2A
, COL6A3, and SH3GL3 have been identified as significant genes in these pathways.
mutation and early-on-set epileptic encephalopathy: personalized therapy with memantine.
A recent genome-wide association and interaction study (GWAIS) identified GRIN2A
, which encodes an NMDA-glutamate-receptor subunit involved in brain's excitatory neurotransmission, as a PD genetic modifier in inverse association with caffeine intake ([p.sub.interaction] = 3 x [10.sup.-5]) .
They found that expression levels of the NMDA receptor genes GRIN1, GRIN2A
, and GRIN2D increased following cell cultures exposed to alcohol for 7 days.
Molecules that are the most current, or promising, target for therapy were associated with schizophrenia, including the dopamine [D.sub.2] receptor (DRD2) gene as were many genes involved in glutamatergic neurotransmission and synaptic plasticity, including GRM3, GRIN2A
, SRR, and GRIA1.
In a study of a million genetic malformations, the research team identified a variant of the GRIN2A
gene as a protective factor against Parkinson's.
Exome sequencing identifies GRIN2A
as frequently mutated in melanoma.