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CHRNE gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CHRNE gene

The CHRNE gene provides instructions for creating a critical component of the acetylcholine receptor, which is essential for communication between nerve and muscle cells.

Normal Function

The CHRNE gene provides instructions for making the epsilon (ε) component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein consists of five subunits, each of which is produced from a different gene.

The AChR protein is found on the surface of skeletal muscle cells, which are used to move the body. The protein plays a critical role in the neuromuscular junction, the area between nerve and muscle cells where cell signaling occurs. Signaling between these cells is necessary for movement.

The AChR protein subunits assemble in the endoplasmic reticulum before being transported to the cell surface. There are two major forms of the AChR protein: a fetal type and an adult type. The ε subunit is found only in the adult AChR protein. At about the 33rd week of pregnancy, the ε subunit replaces the gamma (γ) subunit—which is found only in the fetal type—to form the adult AChR protein.

Health Conditions Related to Genetic Changes

Congenital myasthenic syndromes

Many variants (mutations) in the CHRNE gene cause congenital myasthenic syndromes, a group of conditions characterized by weak muscles that tire easily (myasthenia). Symptoms typically begin shortly after birth or during early childhood.

  • DNA changes: Most variants replace one DNA building block (nucleotide) with another, leading to an altered ε subunit. This can increase or decrease AChR protein signaling, both of which decrease muscle movement and cause weakness.
  • Structural changes: Other variants add or delete small sections of DNA, reducing the number of ε subunits available at the neuromuscular junction.
  • Disease progression: Some individuals experience a milder course of the disease because the fetal γ subunit, which remains active at low levels after birth, can partially compensate for the lack of the ε subunit.

Other Names for This Gene

  • acetylcholine receptor subunit epsilon
  • ACHE_HUMAN
  • AchR epsilon subunit
  • ACHRE
  • cholinergic receptor, nicotinic epsilon

Frequently Asked Questions

Diagnosis usually involves a clinical evaluation of symptoms, electrophysiological studies like repetitive nerve stimulation to assess neuromuscular transmission, and genetic testing to identify specific mutations in the CHRNE gene.
CHRNE-related CMS is typically inherited in an autosomal recessive pattern. This means both parents are usually carriers of a CHRNE mutation. For each subsequent pregnancy, there is a 25% chance of having another affected child. Genetic counseling is highly recommended to discuss carrier testing for parents and family members.
Early signs often include generalized muscle weakness, poor feeding, difficulty breathing, a weak cry, and delayed motor milestones such as head control or sitting. These symptoms typically appear shortly after birth or in early childhood.
Treatment depends on the specific mutation type but often includes medications such as acetylcholinesterase inhibitors (e.g., pyridostigmine) to improve nerve-muscle communication. Other medications like salbutamol or fluoxetine may be used for certain CHRNE-related CMS subtypes. Supportive care, including respiratory support and physical therapy, is also crucial.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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