Autism Research: 17th April, 2015 Week in Review

ResearchPaternal sperm gives new direction to autism research

 A new study published by the researchers from John Hopkins University of Medicine suggests that DNA extracted from sperm of males whose kids showed signs of autism have distinctive patterns of regulatory tags that might be contributing to autism. The findings have been published this week in the journal International Journal of Epidemiology. The study was led by Daniele Fallin and Andrew Feinberg who wanted to find out what happened before a child got autism. Using 44 dads as participants, the team evaluated the sperm for epigenetic tag changes that were associated with autism in the kids born thereafter.

 Journal Reference: Andrew P Feinberg et al. Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort. International Journal of Epidemiology, April 2015 DOI: 10.1093/ije/dyv028

Gestational diabetes now linked to autism risk

 A new study published by the Journal of American Medical Association has found that mothers diagnosed with gestational diabetes (GDM) during pregnancy, inadvertently also increased the risk of their offspring to ASD. Although, the study led by Anny Xiang also found that mothers with pre-existing diabetes mellitus type 2 did not alter the risk of diabetes in their offspring. The study analyzed 320,000 children and found GSM diagnosed by the 26th week of gestation increased autism risk. Maternal hyperglycemia and how it affects the fetal brain yet needs to be studied in much more detail with further research to understand how it can be treated or reversed.

Journal Reference: Anny H. Xiang, Xinhui Wang, Mayra P. Martinez, Johanna C. Walthall, Edward S. Curry, Kathleen Page, Thomas A. Buchanan, Karen J. Coleman, Darios Getahun. Association of Maternal Diabetes With Autism in Offspring. JAMA, 2015; 313 (14): 1425 DOI: 10.1001/jama.2015.2707

New protein IRBIT found to play role in behavioral development

Scientists have discovered that the protein called IRBIT plays a vital role in preventing development of hyperactivity and abnormal social behaviors. It was found that the protein plays a defining role in managing levels of dopamine, a neurotransmitter in the brain, whose absence can evidently lead to abnormal social behavior as well as hyperactivity. The findings of the study were published this week by author Katsuhiko Mikoshiba in the journal Proceedings of the National Academy of Sciences. Both these behavioral alterations are commonly seen in children on the spectrum and having ADHD. The findings could help develop more specific therapies for these conditions in the future with larger scale research.

Journal Reference: Katsuhiro Kawaai, Akihiro Mizutani, Hirotaka Shoji, et al. IRBIT regulates CaMKIIα activity and contributes to catecholamine homeostasis through tyrosine hydroxylase phosphorylation. Proceedings of the National Academy of Sciences, 2015; 201503310 DOI: 10.1073/pnas.1503310112

Scientists unravel Rett Syndrome symptom delay mystery

 Rett syndrome is one of the leading causes of autism and scientists have forever been puzzled by the manifestation of its symptoms about 2 years after birth in most children. Now, a team of neurobiologists from Baylor College of Medicine led by Dr. Huda Zoghbi have found that the protein MeCP2 bound to cytosine guanine (CG) combination followed by a non-guanine group. This took place over a course of 1-2 years. These are typical findings of a human developmental brain. Mice models that lacked this MeCP2 protein preferentially malregulated brain development possibly leading to Rett Syndrome and manifestation of its symptoms in a characteristic manner. The findings were published in the journal Proceedings of the National Academy of Sciences this week. Scientists are ecstatic to discover this finding that has been eluding the scientific community for years now. Doctors can now give a clear answer to their patients when they ask that how did their child have a genetic complaint that suddenly started manifesting after 2 years.

Journal Reference: Lin Chen, Kaifu Chen, Laura A. Lavery, Steven Andrew Baker, Chad A. Shaw, Wei Li, Huda Y. Zoghbi. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proceedings of the National Academy of Sciences, 2015; 201505909 DOI: 10.1073/pnas.1505909112