An accessible explanation of clathrin, its role in the brain, and how CLTC gene variants lead to the features of CLTC-related Intellectual Disability — written for families with no science background.
In plain language:
The CLTC gene provides instructions for building a protein called clathrin. Clathrin acts like the structural component of tiny delivery vehicles inside every cell in your body — especially in brain cells (neurons). When clathrin doesn’t work properly, these internal delivery systems break down. In neurons, this particularly disrupts the recycling of chemical messengers (neurotransmitters) at synapses — the junctions between brain cells. The result is impaired brain development and function, leading to intellectual disability, developmental delay, and in some cases, epilepsy and other features.
Scientific References
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2.Hamdan FF, Myers CT, Cossette P, et al. (2017). High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.. American Journal of Human Genetics, 101(5): 664–685. doi:10.1016/j.ajhg.2017.09.008 PDF
3.Helbig KL, Farwell Hagman KD, Shinde DN, et al. (2016). Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.. Genetics in Medicine, 18(9): 898–905. doi:10.1038/gim.2015.186 PDF
4.McMahon HT, Boucrot E. (2011). Molecular mechanism and physiological functions of clathrin-mediated endocytosis.. Nature Reviews Molecular Cell Biology, 12(8): 517–533. doi:10.1038/nrm3151
5.Watanabe S. (2015). Slow or fast? A tale of synaptic vesicle recycling.. Science, 350(6256): 46–47. doi:10.1126/science.aad2996 PDF