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IBA57 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

IBA57 gene

The IBA57 gene is responsible for the assembly of iron-sulfur clusters in mitochondria, and its dysfunction leads to severe neurological and muscular disorders.

Normal Function

The IBA57 gene provides instructions for making a protein that is involved in the formation and transport of molecules called iron-sulfur (Fe-S) clusters. Certain proteins require Fe-S clusters to function properly. The IBA57 protein is found in cellular structures called mitochondria, which are the energy-producing centers of cells.

In mitochondria, several proteins carry out a series of chemical steps called oxidative phosphorylation to convert the energy in food into a form that cells can use. Many of the proteins that play a role in this process require Fe-S clusters to function. Proteins that contain Fe-S clusters are involved in many functions in the body, including DNA repair and the regulation of gene activity.

Health Conditions Related to Genetic Changes

Multiple mitochondrial dysfunctions syndrome

Pathogenic variants in the IBA57 gene cause multiple mitochondrial dysfunctions syndrome type 3. This condition is characterized by:

  • Vision problems
  • Progressive muscle stiffness (spasticity)
  • Paralysis of the arms and legs (quadriplegia)
  • Severe brain dysfunction (encephalopathy)
  • Loss of mental abilities and acquired skills (developmental regression)

Without normal IBA57 proteins, Fe-S clusters are not attached to proteins, which prevents certain proteins from performing their normal functions. This reduces the amount of energy produced by mitochondria and impairs cellular functions, leading to the severe signs and symptoms of the syndrome.

Other disorders

A pathogenic variant in the IBA57 gene has been found to cause autosomal recessive spastic paraplegia type 74 (SPG74). This condition is part of a group of genetic disorders known as hereditary spastic paraplegias, which are characterized by muscle stiffness and paralysis of the lower limbs. These disorders are caused by the breakdown of nerve cells that trigger muscle movement (motor neurons).

Frequently Asked Questions

No cure exists, but management focuses on supportive care: a high‑fat, low‑carbohydrate (ketogenic) diet to bypass defective oxidative phosphorylation, co‑factor supplementation (riboflavin, coenzyme Q10, thiamine), physiotherapy for spasticity, and regular monitoring of cardiac and respiratory function. Clinical trials of gene‑replacement or mRNA therapy are in early phases but not yet accessible.
Parents may notice poor feeding, low muscle tone, failure to thrive, and early developmental regression. Neurologic signs such as optic atrophy, abnormal eye movements, or unexplained seizures within the first year are red flags that warrant metabolic work‑up and mitochondrial DNA/ nuclear gene testing, including IBA57.
Testing is typically done by next‑generation sequencing (NGS) of a targeted mitochondrial disease panel or whole‑exome sequencing. A peripheral blood sample (EDTA tube) provides sufficient DNA; in some cases, skin fibroblasts or muscle biopsy may be used for functional studies if the result is inconclusive.
IBA57 disorders are inherited in an autosomal‑recessive pattern, meaning both parents are carriers. Each subsequent pregnancy carries a 25 % chance of an affected child, a 50 % chance of a carrier, and a 25 % chance of an unaffected, non‑carrier child. Carrier testing for the parents and prenatal diagnostic options (chorionic villus sampling or amniocentesis) can be discussed with a genetics counselor.
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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