Mental Proteins

Intellectual disabilities are neurodevelopmental disorders identified by significantly impaired mental ability. Recently, researchers have found a gene responsible for a newly defined intellectual disability syndrome. Typically, we have two copies of the gene BCL11A that allow our brain cells to develop normally. However, this study revealed that if one copy of a person’s BCL11A is mutated, they could develop intellectual disability syndrome. Pictured are microscope images showing how mutations in the BCL11A gene can cause changes in where its protein product is present in a cell – normally it’s found in the cytoplasm (seen as bright specks in the top row). Mutated BCL11A has altered distribution (bottom row) and an adverse effect on other genes that are vital for brain development. Further investigation of this crucial network of genes will provide better insight into neurodevelopmental disorders, improving our understanding of intellectual disabilities.

Written by Katie Panteli

Katie Panteli

Writer

Katie, a Warwick Biomed graduate, works for a science-publishing house in London with some of the world's most respected scientific minds. She's most interested in human biology, anything and everything that makes us tick.

• Image from work by Cristina Dias and Sara B. Estruch and colleagues
• Wellcome Trust Sanger Institute, Wellcome Genome Campus, Cambridge, UK and Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands
• Image originally published under a Creative Commons Licence (BY 4.0)
• Published in American Journal of Human Genetics, July 2016