Clues to genetic origins of schizophrenia revealed

A recent study on the origin of schizophrenia, a neurodevelopmental disorder, was recently conducted. Due to the human genetic diversity, as well as the evolutionary and ancestral ties, the Xhosa population of South Africa was used in this study.  They analyzed over 1800 case studies and controls regarding the Xhosa population, with controls for age, gender, and residency. This study was conducted to better understand the origins of schizophrenia, a disorder where many individuals often do not have children. They used whole-exome sequencing on 1,826 individuals (i.e. cases and controls). Many of the genes are involved in organization and function of brain synapses, which is critical to memory.

Overall, when an individual has a severe mutation in an associated gene, it depends on the biology of the gene, mutation of gene function, and secondary events to determine whether the individual develops schizophrenia. The damaging mutation in the associated gene may not afflict the individual that it appears in first, but rather in later generations.


Kailie Batsche

Potluck for 3 March 2020

Link (paper and image): https://science-sciencemag-org.proxygw.wrlc.org/content/sci/367/6477/569.full.pdf

Authors: 

S. Gulsuner, D. J. Stein, E. S. Susser, G. Sibeko, A. Pretorius, T. Walsh, L. Majara,
M. M. Mndini, S. G. Mqulwana, O. A. Ntola, S. Casadei, L. L. Ngqengelele, V. Korchina,
C. van der Merwe, M. Malan, K. M. Fader, M. Feng, E. Willoughby, D. Muzny, A. Baldinger, H. F. Andrews, R. C. Gur, R. A. Gibbs, Z. Zingela, M. Nagdee, R. S. Ramesar, M.-C. King*, J. M. McClellan