Yasunari Sakai, M.D., Ph.D., Post-doc

Phone: 713-798-6695
E-mail: ysakai@bcm.edu

Joined the lab: May 2006

Education:
1995 M.D. from Kyushu University, Fukuoka, Japan
2002 Ph.D. from Kyushu University, Fukuoka, Japan

Project: Functional studies to gain insight about autism

Sixty years ago (1943), autism was first described by Kanner as behavioral disorder with prominent features of a profound withdrawal from contact with people, an obsessive desire to preserve sameness, and a failure to use language for communication. At present, the prevalence of autism is considered to be 5-90 per 10,000. Despite its higher incidence among the various CNS diseases in childhood, autism remains a developmental disorder that could be only defined upon the behavioral examinations. It has been noted, however, that this condition could be observed in a spectrum of the specific categories of genetic or epigenetic disorders, such as Rett syndrome and Angelman syndrome. Also, some mutated genes responsible for autistic phenotypes with familial onsets have been identified so far although the majority of the gene functions in human brain remain to be determined.
I am using some of the proteins implicated in these disorders as a springboard for functional studies to gain insight into how they affect social behavior.

Selected publications:

1. Sakai et al. A Molecular Basis for the Selective Recognition of 2-Hydroxy-dATP and 8-Oxo-dGTP by Human MTH1. J Biol Chem. 2002, 277:8579-8587.
2. Mishima et al. Structure of human MTH1, a Nudix family hydrolase that selectively degrades oxidized purine nucleoside triphosphates. J Biol Chem. 2004, 279:33806-33815.
3. Sakai et al., Benign convulsion with mild gastroenteritis and benign familial infantile seizure. Epilepsy Res. 2006, 68:269-271.
4. Sakai et al. The GT to GC single nucleotide polymorphism at the beginning of an alternative exon 2C of human MTH1 gene confers an amino terminal extension that functions as a mitochondrial targeting signal. J Mol Med. 2006 Aug;84(8):660-70.