07-07-2015 | Research into genetic effects on epilepsy and migraines

'07-07-2015 | Research into genetic effects on epilepsy and migraines' image

Researchers at University College London (UCL) Institute of Neurology have begun to investigate genetic influences on neurological disorders such as epilepsy, ataxia, rare and severe headache disorders.

Epilepsy, migraine and associated convulsive neurological disorders, known as synaptopathies – relating to the dysfunction of the synapse – are characterised by sporadic symptoms that disturb long periods of normal function.

Genetics plays a big role in these conditions, yet a single gene is rarely responsible for any condition. There is a limited understanding of how mutations in different genes interact, and why the symptoms are irregular. This lack of information is hampering progress in diagnosis and treatment.

These conditions exhibit strong heritability, yet the underlying genes and cellular mechanisms remain largely unknown. They are difficult conditions to dissect and require an integrated team approach, said Professor Henry Houlden, co-Principle Investigator, UCL Institute of Neurology.

Researchers including Professor Houlden, Principal Investigator Professor Dimitri Kullmann and Nobel Prize winner Professor James Rothman will work on determining changes in the genes and examine how these changes affect the transmission of signals across synapses.

The researchers will study patients who experience migraines, cluster headache, epilepsy, episodic ataxia, paroxysmal sleep disorders and episodic dystonia by analysing their genome from a blood sample to identify genes that cause the condition and investigate condition mechanisms. In many patients they will also take a 3mm skin biopsy to develop stem cells and develop muscle and neuronal models of these conditions.

The researchers anticipate that identifying where mechanisms can be interrupted or stabilised as a corrective treatment will lead to the development of condition models. They will also endeavour to understand the connections among multiple genetic variants that can occur together in affected individuals.

Some gene defects may be strong enough to cause a sudden attack or increase of symptoms of a condition singularly or, in some individuals, one or more genetic defects will predispose to migraine. These cases may not get frequent migraines unless there is an additional event that can result in an intermittent disorder, such as a blow to the head or if they are under stress.

Source: UCL Institute of Neurology www.ucl.ac.uk/ion/articles/news/20150102