Thursday, August 30, 2012
Recent general media coverage has
suggested a gene sequencing study by deCode genetics ehf showed a clear link between paternal age and mutations
that might cause autism spectrum disorder and schizophrenia. However, the newspapers
failed to note that a direct relationship between the mutations described in
the paper and autism spectrum disorder or schizophrenia remains to be
established. The papers also glossed over the main finding of the study-there
is a paternal origin for genetic variation in the general human population.
Shown and known
Stefánsson's team gathered complete
genomic data from 78 Icelandic families typically consisting of a father, a
mother and their offspring. Of the offspring, 44 were autistic and 21 had
schizophrenia. Altogether the team sequenced 219 individuals.
The deCode study builds a solid case
for a paternal origin of spontaneous genetic variation, thought to be a basic
mechanism of evolution. Whether these paternally derived mutations affect ASD
and schizophrenia risk remains unclear.
There are multiple other possibilities
for why neuropsychiatric disease rises in the children of older parents.
Osherovich, L. SciBX 5(34); doi:10.1038/scibx.2012.889
Published online Aug. 30, 2012
1. Kong, A. et al.
Nature; published online Aug. 22, 2012;
Contact: Kári Stefánsson, deCode genetics ehf, Reykjavik, Iceland
2. Malhotra, D. &
Sebat, J. Cell 148, 1223-1241 (2012)
3. Neale, B.M. et al.
Nature 485, 242-245 (2012)
4. Sanders, S.J. et al.
Nature 485, 237-241 (2012)
5. O'Roak, B.J. et al.
Nature 485, 246-250 (2012)
6. Van Meter, K.C. et
al. Autism Res. 3, 19-29 (2010)
AND INSTITUTIONS MENTIONED
Broad Institute of MIT and Harvard, Cambridge, Mass.
Centers for Disease Control and Prevention, Atlanta, Ga.
deCode genetics ehf, Reykjavik, Iceland
Harvard Medical School, Boston, Mass.
University of California, Los Angeles, Calif.