Introduction: The genetic basis of variation in human cognitive abilities is poorly understood. RIMS1 encodes a synapse active zone protein with important roles in maintenance of normal synaptic function: mice lacking this protein have greatly reduced learning ability and memory function. We used an established paradigm examining structural and functional effects of mutations in genes expressed in the eye and the brain to study a kindred with an inherited retinal dystrophy due to RIMS1 mutation.
Materials and Methods: Neuropsychological tests and high-resolution MRI brain scanning were undertaken in the kindred. In a population cohort, neuropsychological scores were associated with common variation in RIMS1. Additionally, RIMS1 was sequenced in top-scoring individuals. Evolution of RIMS1 was assessed, and its expression in developing human brain studied.
Results: Affected individuals showed significantly enhanced cognitive abilities across a range of domains. Analysis suggests factors other than RIMS1 mutation were unlikely to explain the enhanced cognition. No association with common variation and VIQ was found in the population cohort, and no other mutations in RIMS1 were detected in the highest scoring individuals from this cohort. RIMS1 protein is expressed in human developing brain, but RIMS1 does not appear to have been subject to accelerated evolution in man.
Conclusions: Our preliminary results suggest a possible role for RIMS1 in enhancement of cognitive function at least in this kindred. Whilst further work is clearly required to explore these findings before a role for RIMS1 in human cognition can be formally accepted, the findings suggest genetic mutation may enhance human cognition in some cases.
- cone-rod dystrophy
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.