Posted December 2018 on the preprint server:
Ravi K Nadella, Anirudh Chellappa, Anand G Subramaniam, View ORCID ProfileAman Aggarwal, Ravi Prabhakar More, Mahalakshmi Dhana sekar, Srividya Shetty, Suriya Prakash, Nikhil Ratna, Vandana VP, Meera Purushotham, Jitender Saini, Biju Viswanath, Bindu PS, Madhu Nagappa, Bhupesh Mehta, Sanjeev Jain, View ORCID ProfileRamakrishnan Kannan
Novel KCNJ10 mutation identified in a SeSAME family compromise channel function and impairs Drosophila locomotor behavior
https://www.biorxiv.org/content/10.1101/506949v1
From the preprint abstract: "Deficits in the inwardly rectifying K channel, Kir4.1, cause SeSAME syndrome, autism spectrum disorders with seizures, multiple sclerosis, Huntington disease and Rett syndrome. ... We used whole exome sequencing (WES), channel physiology in patient-specific lymphoblastoid cells (LCLs) and established a Drosophila model to examine the functional effects of a KCNJ10 variant identified in SeSAME like family. ... Drosophila irk2 mutant, a human homolog of Kir4.1, exhibited impairment locomotion, shortened life span and age dependent degeneration of dopaminergic neurons in the adult brain. ... neural specific expression of either Kir4.1 or Irk2 alleviate irk2 mutant phenotypes, while the Kir4.1(T290A) and Irk2(T290A) mutant proteins failed to do so. These results imply the functional conservation of Kir4.1 across species thereby elevate the potential of using Drosophila model to improve our understanding of the SeSAME syndrome. ..."
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