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

LMNA gene

The LMNA gene provides instructions for creating structural proteins called lamins, which are essential for maintaining the integrity of the cell nucleus.

Normal Function

The LMNA gene produces several proteins, most notably lamin A and lamin C. These are intermediate filament proteins that provide structural support to cells.

They are key components of the nuclear lamina, a mesh-like layer attached to the inner membrane of the nuclear envelope. This structure regulates the movement of molecules into and out of the nucleus and may play a role in regulating gene expression.

Health Conditions Related to Genetic Changes

Emery-Dreifuss muscular dystrophy

Mutations in the LMNA gene can cause this condition, which affects skeletal and cardiac muscles. It is characterized by joint contractures, progressive muscle weakness, and heart problems.

Familial partial lipodystrophy

Also known as Dunnigan type, this condition involves an abnormal distribution of body fat. Fat is lost from the limbs and hips while accumulating in the face, neck, and abdomen due to the dysfunction of fat-storing cells (adipocytes).

Hutchinson-Gilford progeria syndrome

Most cases are caused by a specific mutation (C1824T) that leads to the production of an abnormal protein called progerin. This protein disrupts the nuclear envelope, causing the nucleus to become unstable and leading to premature aging symptoms starting in childhood.

LMNA-related congenital muscular dystrophy (L-CMD)

This rare condition causes skeletal muscle weakness and atrophy from early infancy due to the production of malfunctioning lamins that alter nuclear envelope structure.

Mandibuloacral dysplasia

This condition (type A) involves bone abnormalities, skin discoloration, and loss of fatty tissue under the skin. It is often caused by mutations that alter the interaction of lamin proteins with other components of the nuclear lamina.

Other Disorders

Mutations in the LMNA gene are linked to a group of disorders known as laminopathies, which often have overlapping symptoms. These include:

  • Atypical progeroid syndrome (APS): Similar to Hutchinson-Gilford progeria but with a later onset and milder bone/fat abnormalities.
  • Lethal restrictive dermopathy: A severe neonatal condition characterized by rigid skin and underdeveloped lungs.
  • Cardiomyopathies: Including arrhythmogenic right ventricular cardiomyopathy, familial atrial fibrillation, and nonsyndromic dilated cardiomyopathy.
  • Charcot-Marie-Tooth disease.

Other Names for This Gene

  • LMN1
  • LMNA_HUMAN

Frequently Asked Questions

Patients are at high risk for conduction system disease (AV block, sinus node dysfunction) and dilated cardiomyopathy. Regular ECGs, Holter monitoring, and echocardiograms are recommended at least annually; many clinicians implant a pacemaker or defibrillator early to prevent sudden cardiac death.
The FDA‑approved drug lonafarnib, a farnesyltransferase inhibitor, has been shown to improve vascular stiffness and increase survival modestly. Clinical trials are ongoing for combination therapies (e.g., rapamycin, gene‑editing approaches). Supportive care focuses on cardiovascular monitoring, nutrition, and physical therapy.
Most pathogenic LMNA variants are autosomal dominant, meaning each child has a 50 % chance of inheriting the mutation. Prenatal testing or pre‑implantation genetic diagnosis is available for families who know the specific variant. Genetic counseling is essential to discuss variable expressivity and the possibility of de novo mutations.
Patients should adopt a heart‑healthy diet low in saturated fat and simple sugars, engage in regular aerobic exercise, and monitor triglycerides, glucose, and blood pressure closely. Early treatment with metformin, fibrates, or GLP‑1 agonists may be needed to control insulin resistance and dyslipidemia.
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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