Thursday, January 10, 2008

16p11.2 linked to autism

We've discussed in the past how copy number variation in the genome may be the smoking gun behind autism. Well a new paper in the NEJM attributes 1% of all autism cases to a CNV on chromosome 16 at 16p11.2. Hopefully this discovery will shed some light on physiological basis of autism. There are some indications that autism may be reversible if only we knew what was wrong. In fact it seems that even a fever can temporarily improve behavior of autistic patients... The paper fails to really get into the details, but find bellow a list of genes in that region, and what little information I could find on them. Notice that there is an enrichment in brain transcripts, implying a multigenic basis of the disease. Place your bets now on which gene will the next big breakthrough:

BOLA2: cell proliferation & cell cycle
GIYD1/2: sulfotransferase family
SULT1A3/4: sulfotransferase family
spn: important for lymphocyte funstion, is also defective in WAS, an x-linked mental retardation
QPRT: Elevation of qprt in the brain may be involved in the pathogenesis of neurodegenerative disorders
c16orf54: hypothetical protein
kif22: kinesin-like protein family
maz: MYC-associated zinc finger protein
prrt2: glucan 1,4-alpha-glucosidase activity
c16orf53: hypothetical protein
mvp: resistance to lung infection
cdipt: phosphatidylinositols biosynthetic pathway
sez6l2: homologous to a seizure related genes
asphd1: A transcript abundant in the brain, catalyses oxidative reactions in a range of metabolic processes
KCTD13: binding partner to PCNA at replication foci
loc124446: hypotethical protein
toak2: ?
hirp3: ?
ccdc95:coiled-coil domain containing 95, function unknown
doc2a: implicated in neurotransmitter release
fam57b: transmembrane protein of the cerebellum
aldoa: aldolase
pp4c: Serine/threonine-protein phosphatase
tbx6: required for choice between mesodermal and a neuronal differentiation pathway during gastrulation
ypel3: cell division,mitotic spindle
gdpd3: glycerol metabolism
mapk3: erk signalling and growth. erk1 knockout mice have behavioral problems

Blogging on Peer-Reviewed Research
ref: January 9, 2008 (DOI: 10.1056/NEJMoa075974), in print February 14, 2008


Anonymous said...

SEZ6L2( 1/3 of Autistic children have epilepsy,) and MAPK3 Thats already been implicated in autism before.