The Woman Who Couldn't Wake Up by Quinn Eastman
Author:Quinn Eastman
Language: eng
Format: epub
Publisher: Columbia University Press
LESSONS FOR IH
As investigations of short sleep families suggest, it is unlikely for long sleep IH to be caused by only one type of mutation, such as a mutation in a circadian clock component. When German or Japanese research teams used the candidate gene approach to look for circadian clock mutations in IH, they did find a few associated variants.64 However, the associations were weak, similar to those reported in the GWAS study of essential hypersomnia, and individuals with long sleep duration were not separated out. Genetic studies of patients diagnosed with IH also have the potential to detect inherited conditions with overlapping symptoms, such as myotonic dystrophy.
Other genes related to IH may include those responsible for sensitivity to sleep deprivation or sedatives.65 As stories in this book show, idiopathic hypersomnia has emerged as a clinical topic of interest partly because caffeine and conventional stimulants were unsatisfactory options. Thus, a reduced response to caffeine or stimulants or an inability to tolerate them may be a factor appearing in genetic analysis of IH because of altered drug metabolism or heightened aversive effects. For a large number of people with IH, their increased need for sleep was not present at birth but emerged around adolescence, with triggering events such as a viral infection or anesthesia. Thus, the underlying biology may be sensitivity of neural sleep-wake circuits to injury, possibly bearing some similarity to narcolepsy type 1.
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