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PER3 Gene Mutation and Delayed Sleep Phase Disorder

September 1, 2017
PER3 Gene Mutation and Delayed Sleep Phase Disorder
There have been numerous genetic studies for sleep disorders in humans, mammals and fruit flies (Drosophilia). Variants in the genes CLOCK, BMAL, OPN4, NFIL3, RORC, BHLHE40, ASMT, CRY1, CRY2 and PER3 can cause circadian rhythm malfunctioning. A study from 2003 found that a variant of the PER3 gene is associated with Delayed Sleep Phase Disorder. The length of the PER3 gene allele correlates with a person's tendency for morningness or eveningness - "the shorter allele was strongly associated with the delayed sleep phase syndrome patients."…
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UCSF Circadian Sleep Disorder Study – The Results

August 27, 2017
UCSF Circadian Sleep Disorder Study – The Results
Two years after my father and I participated in Dr. Ptacek's study, I received the following note from the lab coordinator: "Recently, we came across some very interesting findings within your family. These findings may lead to the discovery of the first ever night owl sleep gene." Needless to say, I was THRILLED. My longstanding belief that my extreme night owl sleep pattern has a genetic basis was being proven, SCIENTIFICALLY. The coordinator asked for more of…
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UCSF Study – Part 1, My Time as a Guinea Pig

August 26, 2017
UCSF Study – Part 1, My Time as a Guinea Pig
Ten years ago, I participated in a DNA study at UCSF Mission Bay's Laboratories of Neurogenetics. Overlooking the San Francisco Bay, the lab focuses on human genetics and developmental neuroscience. By studying families with neurological phenotypes (which means 'heritable genetic identity'), UCSF researchers are identifying genes that cause various disorders of the nervous system, such as Parkinson's disease and multiple sclerosis. In 2006, the labs had started to research circadian sleep disorders and, naturally, I was eager to learn…
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Treatments for Delayed Sleep Phase Disorder

July 25, 2017
Treatments for Delayed Sleep Phase Disorder
Here’s a partial list of the “treatments” I’ve tried so far: Light Therapy: Bright light therapy (10,000 lux light box, Feel Bright Light visor, Golite Blue Energy Light, etc.) in the morning. Light restriction (a.k.a. darkness therapy) via blue-light blocking glasses, black out curtains, f.lux on various screens. Using dim red-filtered light to avoid polychromatic and blue light in the evening. “Natural” Remedies: Valerian, passionflower extract, milky oats, catnip, skull cap, hops, teas, strong chamomile tea, natural GABA…
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Cortisol Levels Over A 24-Hour Period

July 15, 2017
Cortisol Levels Over A 24-Hour Period
This graph shows the peak cortisol release over a 24-hour period for a "typical" person (it peaks around 8 am). I recently did an at-home cortisol saliva test - I collected samples four times (morning, noon, evening, and at bedtime) throughout the day. Since my sleep is delayed about four hours from a "normal" person, I did my morning sample at 11 am, my noon sample at 3 pm, my evening sample at 9 pm and my bedtime sample…
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Blame Your Parents – It’s Your Genes

July 1, 2017
Blame Your Parents – It’s Your Genes
Evidence continues to mount that certain types of sleep behaviors are governed by our genes. Some of the genes implicated in circadian rhythm sleep disorders are Period (PER1, PER2 and PER3) genes. For those who suffer from Delayed Sleep Phase Syndrome, one of the culprits is a mutation (or 'variation') of the PER3 gene. This research is not new - here's an excerpt from a study in a 2003 issue of Sleep magazine: "The Per3 polymorphism correlated significantly with extreme diurnal preference, the longer…
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Circadian Rhythms, 101

June 25, 2017
Circadian Rhythms, 101
Recently, there has been no shortage of news about circadian rhythms and sleep. Clearly, interest in this topic is growing - the New York Times article entitled 'Yes, Your Sleep Schedule Is Making You Sick' was one of the most emailed articles for the week. Before I dive into the latest research – which holds hope for Delayed Sleep Phase Syndrome sufferers – a quick primer on circadian rhythms is in order. A circadian rhythm is any bodily process that displays…
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What Is Delayed Sleep Phase Syndrome?

June 15, 2017
What Is Delayed Sleep Phase Syndrome?
Delayed sleep phase syndrome (DSPS) is a condition in which the body’s internal clock is delayed several hours behind what is considered normal. DSPS-ers can sleep normally and follow a consistent sleep schedule – just at a later time (such as 4 am to 11 am). As a circadian rhythm disorder (CRD), DSPS affects other daily rhythms such as those for body temperature, appetite, heart rate and blood pressure. DSPS is genetic; studies have linked it…
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