Imagine if you could take a small sample of cells from a person, say some skin or blood cells, and through the wizardry of molecular biology, transform them into stem cells. Stems cells have the capacity of being transformed into any cells in the body, such as heart cells or brain cells. Well, what was science fiction only a decade ago is now science fact. Drs. Shinya Yamanaka and John Gurdon received the Nobel Prize in 2012 for discovering how to “deprogram” skin cells into what are now called Induced Pluripotent Stem Cells or iPSCs. By treating iPSCs with the correct soup of chemicals, they can be transformed into brain cells (neurons and glial cells) and maintained in tissue culture for analysis of their structure, function and genetics.
Neurons derived from human iPSCs have become a valuable model for research on autism spectrum disorder (ASD) (Vaccarino et al., 2011; Wen, Christian, Song, & Ming, 2016). The brain cells of living humans can be analyzed and probed for alterations that may be associated with their disorders. In addition to providing a way to understand aspects of the neurobiology of ASD, the long-term hope is that studying iPSCs will provide new targets for drug treatment. And, the effects of potential therapeutic drugs could be tried on the iPSCs rather than the patient – shortening the time to determining the most effective drug for a particular individual. Many researchers believe that iPSCs will be an important tool towards the realization of precision, personalized medicine for ASD and other neurological and psychiatric disorders.
The research with iPSCs is truly remarkable. But, it will never give us the full picture of the neural alterations associated with ASD. The brain is a complex, three-dimensional organ that has a sophisticated network of long and short connections between different functional areas. There is strong evidence that a fundamental problem in ASD is in the altered development and functioning of connections between brain regions associated with social behavior, language and other functions modified in the disorder. To study these connections and the brain regions that they connect, it is necessary to investigate the human brain with magnetic resonance imaging or with the microscope. For the latter, postmortem human brain material is essential.
So, while iPSCs are a valuable tool for ASD research, they cannot replace the postmortem human brain for achieving a complete understanding of the neuroanatomy of autism. We appreciate your support of Autism BrainNet and hope that you will spread the word about the need for postmortem brain donations.
Vaccarino, F. M., Urban, A. E., Stevens, H. E., Szekely, A., Abyzov, A., Grigorenko, E. L., et al. (2011). Annual Research Review: The promise of stem cell research for neuropsychiatric disorders. J Child Psychol Psychiatry, 52(4), 504-516.
Wen, Z., Christian, K. M., Song, H., & Ming, G. L. (2016). Modeling psychiatric disorders with patient-derived iPSCs. Curr Opin Neurobiol, 36, 118-127.