Scientists have uncovered genetic² evidence suggesting the sleep disorder³ narcolepsy is linked to a fault in the immune system's "foot soldier" cells.

科学家发现基因方面的证据证明睡眠紊乱跟免疫系统的“步兵”细胞有关。

There is no cure for narcolepsy

It suggests these T-cells may cause the condition by attacking cells in the sleep centres of the brain.

Narcolepsy（嗜眠发作）, which causes extreme daytime sleepiness and sudden muscle weakness, has previously⁴ been linked to a malfunctioning⁵（不正常工作） immune system.

The Stanford University research appears in the journal Nature Genetics.

Narcolepsy is a mysterious, uncommon⁶ condition that can be very distressing⁷ for those who have it.

It can trigger "sleep attacks" without any warning during any normal activity.

In addition, some people can experience "cataplexy（昏倒，猝倒）", where strong emotions such as anger, surprise, or laughter can trigger an instant loss of muscle strength, which, in some cases, can cause collapse⁸.

There is currently no cure for narcolepsy, only ways to minimise symptoms such as taking frequent, brief naps evenly spaced throughout the day.

Brain cells

The condition has previously been linked to depletion⁹（消耗，放血） of cells deep in the regulatory regions of the brain.

But lead researcher Dr Emmanuel Mignot said while previous research had only suggested a link with a fault in the immune system, the latest study provided firm evidence.

The Stanford team carried out an extensive genetic analysis to identify specific areas of the genome（基因组，染色体组） which appeared to be linked to the condition.

They pinpointed¹⁰ three specific genetic variants¹² in the same gene¹ in people with European and Asian ancestry¹³ that appeared to be associated with an increased susceptibility（感受性，感情） for narcolepsy.

The gene in question plays a key role in the functioning of an important receptor（受容器，摄取体） used by T-cells to recognise foreign proteins in the body.

The only previous genetic variant¹¹ linked to narcolepsy was in a gene which also plays a role in T-cell receptors.

Dr Mignot said: "Narcolepsy is probably the result of a series of unfortunate events, starting with genetic predisposition（遗传倾向性）, involvement of an environmental trigger such as an infection, then T-cell activation¹⁴, then effects on many other arms of the immune system."

He said the latest study raised the possibility of developing a therapy for narcolepsy which worked by blocking activity of the specific T-cell receptors.

Identifying the genetic variants may also provide a diagnostic tool to pick up narcolepsy at an early stage.

Quality of life

Dr Mignot added: "I believe that narcolepsy could be a very interesting model for studying autoimmune diseases that affect the brain.

"Very few such diseases are known, and I believe that we will find many more brain autoimmune diseases in the future that cause neuropsychiatric disorders¹⁵ for example."

UK sleep specialist Dr Renata Riha, from Edinburgh's Royal Infirmary, said the idea that narcolepsy was linked to an immune system attack on brain cells was gaining ground, with evidence that many patients shared the same genetic variants controlling immune system function.

She said: "There is a strong immunological link to the development of narcolepsy."

But she added: "Disease expression is rarely the result of one single factor.

"The condition is disabling and if severe can be most distressing.

"Much research has been done to show that patients' with narcolepsy have lower self-perceived quality of life comparatively speaking and increased incidence of depression."