Hemiplegic migraine is a severe subtype of migraine, usually inherited dominantly in families, where people experience significant weakness/paralysis on one side of their body along with serious migraine symptoms. Since 1999 the Genomics Research Centre , QUT, led by Distinguished Professor Lyn Griffiths has been undertaking molecular genetic research and diagnostic testing for these types of migraine. The NHMRC has supported this research to identify novel genes involved in causing hemiplegic migraine.
Using genome sequencing methods and in collaboration with leading national and international neurologists and scientists from the Department of Human Genetics and Department of Neurology Leiden University Medical Centre, Leiden, the Netherlands, recent studies from this research have implicated two new genes in hemiplegic migraine. The CACNA1H and CACNA1I genes are ion channel genes involved in controlling calcium levels in the brain. Research using whole exome sequencing data from Australian (n=187) and Dutch (n=32) patients, confirmed a significant number of mutations in these genes in both cohorts, with results very recently published in Molecular Neurobiology [1]. In addition, further studies investigating the role of these mutations in the CACNA1I gene, confirmed that there were functional effects of CACNA1I mutations on the electrophysiological properties of this gene. These studies undertaken using patch-clamp electrophysiology measurements for five implicated mutations, showed numerous functional alterations across the channels suggesting that the rare variants identified in CACNA1I could play a causative or contributory role in hemiplegic migraine. This work undertaken in collaboration with national and international scientists from the University of Wollongong, Wollongong, NSW, Australia, and the Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom has also recently been published in Frontiers in Molecular Neuroscience [2]
[Pictured: Genomics Research Centre Group]