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DNAナルコレプシー鑑定

Is excessive daytime sleepiness caused by genetic factors?

Excessive daytime sleepiness may be caused by your genes. This DNA test can provide detailed information about your risk.

Detection of HLA-DQB1*06:02 mutation
Increased risk for individuals with two of the relevant mutations.
Results are provided online under strict privacy protection.
Painless sample collection method

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What is narcolepsy (sleeping disorder)?

Narcolepsy is a neurological disorder that causes excessive daytime sleepiness and sudden sleep attacks. It’s not simply fatigue; it’s caused by an underlying brain problem, not just a lack of sleep.

Typically, people go through several sleep cycles during the night, each lasting approximately 100-110 minutes. These cycles are divided as follows:

Non-rapid eye movement (NREM) sleep
Rapid eye movement (REM) sleep. This is when you dream and your muscles relax.

Most people enter REM sleep 70-90 minutes after falling asleep. However, people with narcolepsy enter REM sleep almost immediately. This can lead to symptoms such as sleep paralysis, vivid dreams, and cataplexy (sudden muscle weakness while awake).

What is the prevalence rate of narcolepsy?

Narcolepsy affects between 1 in 2,000 and 1 in 5,000 people. Sadly, only about 25% of those affected are accurately diagnosed. Some people are wrongly labeled as having an emotional or psychiatric problem.

Genetics and Narcolepsy

Most cases of narcolepsy (sleeping sickness) occur randomly, but genetics plays a significant role. People with a family history of narcolepsy are 20 to 40 times more likely to develop it.

Approximately 90-99% of people with narcolepsy have a mutation in the HLA-DQB1 gene known as HLA-DQB1*06:02 . However, having this gene does not necessarily mean that one will develop narcolepsy. Other factors, such as infections and stress, can also contribute.

Tested mutations and the risk of narcolepsy

A DNA test can determine if you have inherited the HLA-DQB1 gene:

HLA-DQB1*06:02 (two copies): The risk of narcolepsy is 7-25 times higher. These individuals will pass this gene on to all their children.
HLA-DQB1*06:02 (one copy) + alternative allele of the HLA-DQB1 gene: These individuals have a 3 times higher risk of narcolepsy than average and a 50% chance of passing the gene on to their children.
No copy: It is rare for such individuals to have narcolepsy, and they do not inherit the associated gene.

However, the fact that 15-25% of people without narcolepsy also have the HLA-DQB1*06:02 mutation indicates that genetics is not the sole cause of narcolepsy.

Many other mutations exist in the HLA-DQB1 gene, many of which offer some degree of protection against narcolepsy. This complicates the risk analysis.

Symptoms of narcolepsy (sleeping disorder)

Narcolepsy is a disorder with a variety of symptoms, and the frequency of these symptoms varies among affected individuals:

Excessive daytime sleepiness : This symptom, universally experienced by all individuals with narcolepsy, results in feeling sleepy during the day or having an uncontrollable need to sleep.
Cataplexy : This condition, which affects about 70% of patients, involves a sudden loss of muscle strength, often triggered by strong emotions such as laughter, anger, or surprise.
Sleep paralysis and vivid hallucinations : These are experienced by 10-20% of people with narcolepsy. Sleep paralysis causes people to become immobile or unable to speak while sleeping or awake. These episodes may be accompanied by auditory or visual hallucinations.
Microsleep : Short sleep episodes that last only a few seconds. During these moments, individuals may fall asleep instantly and may not even realize it.
Nocturnal awakenings : Despite daytime sleepiness, people with narcolepsy often wake up in the middle of the night, disrupting their sleep patterns.
Helplessness : A general loss of muscle strength often associated with episodes of cataplexy.
Spontaneous contraction of leg muscles : The leg muscles contract spontaneously without a clear trigger.
Rapid transition to REM sleep : Unlike most people who enter REM (dream) sleep 70-90 minutes after falling asleep, people with narcolepsy can enter this stage within minutes of falling asleep.