Genetic influences on cortical structure and function

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Bilkent University
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Structure and function of the human central nervous system is determined by both genetic and environmental in uences. One of the fundamental quests in neuroscience studies is to determine to what degree each of these two factors in uence the development and function of the nervous system and, ultimately, human behavior. However, this is an inherently di cult problem to tackle as it is nearly impossible to tease apart the individual contributions of genes and environment, since they interact heavily throughout an organism's life. Recently, our understanding about the role that speci c genes play in the development of brain structure and function, has been greatly advanced by studies that combine genetic and neuroimaging methods to investigate congenital neurodevelopmental disorders. These studies of patients, that are homozygous for a speci c mutation, allow to single out contributions of individual genes in the neurodevelopmental process and have the potential to reveal gene-based alterations in cortical structure and function that can not be compensated by mechanisms of cortical plasticity or mitigating environmental e ects. In this thesis I pursue this promising approach further and investigate the e ects of three di erent single gene mutations on brain structure and function - namely RAD51, LAMC3 and HTRA2. Each of these genes is highly expressed during neurodevelopment, and each in uences cortical structure and function di erently. Overall, I nd that these genes are all highly associated with abnormal structural and functional connectivity patterns, however, and surprisingly, highly abnormal structure does not necessarily predict highly abnormal behavior.

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Congenital Mirror Movements Disorder, RAD51, Pachygyria, LAMC3, Essential Tremor, HTRA2, Connectivity
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