Ini adalah salah satu abstrak dari
presentasi yang saya dengarkan pada konferensi dalam rangka penutupan
Dutch Dyslexia Program. Acara ini diselenggarakan di Amsterdam pada
tanggal 8 Desember 2011. Semoga abstrak di bawah ini menginspirasi kita
semua untuk bekerja secara lintas disiplin untuk dapat memahami
masalah-masalah bahasa pada anak-anak Indonesia secara lebih baik dan
membantu mereka yang mengalaminya. Kalau bukan kita yang peduli, siapa
lagi?
Dr. Simon Fisher, Max Planck Institute for Psycholinguistics
Neurogenetic pathways underlying a severe speech and language disorder
People
who carry rare heterozygous mutations disrupting the FOXP2 gene have
problems mastering the complex sequences of mouth movements needed for
speech, along with deficits in many aspects of expressive and receptive
language. The gene encodes a highly conserved transcription factor that
helps to regulate development/function of neuronal subpopulations in a
wide range of vertebrates, although evidence suggests that its roles may
have been modified during human evolution. I will describe how FOXP2
can provide a unique window into key neurogenetic pathways via an array
of complimentary approaches. For example, using functional genomic
screening of human neurons grown in the laboratory, we identified
CNTNAP2 (a member of the neuroxin superfamily) as a downstream target
directly regulated by FOXP2. Intriguingly, CNTNAP2 is itself associated
with common language impairments, and has also been implicated in
language delays of autistic children. High-throughput screening has
enabled us to isolate additional FOXP2 targets, including genetic
networks involved in neurite outgrowth and synaptic plasticity. Moving
to animal models of FOXP2 dysfunction, we have shown that point
mutations implicated in human speech deficits yield impaired motor-skill
learning in mutant mice. Electrophysiological recording suggests that
this may be mediated by altered plasticity of Foxp2-expressing
circuitry. This work demonstrates how we can begin to bridge gaps
between genes, brains and speech and language.
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