HomeGeneticsGeneBOLA3 gene
Back to Gene
BOLA3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BOLA3 gene

The BOLA3 gene is responsible for creating a protein that facilitates the formation and transport of iron-sulfur clusters within mitochondria.

Normal Function

The BOLA3 gene provides instructions for making a protein involved in the formation and transport of molecules called iron-sulfur (Fe-S) clusters. Certain proteins require these clusters to function properly.

The BOLA3 protein is found in the mitochondria, the energy-producing centers of cells. In these structures, 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 involved in this process require Fe-S clusters to function. Proteins containing Fe-S clusters are also involved in DNA repair and the regulation of gene activity.

Health Conditions Related to Genetic Changes

Multiple mitochondrial dysfunctions syndrome

Pathogenic variants in the BOLA3 gene cause multiple mitochondrial dysfunctions syndrome type 2. This condition is characterized by breathing difficulty (respiratory distress) and a weakened heart muscle (cardiomyopathy). Additional health problems include:

  • Severe brain dysfunction (encephalopathy)
  • Loss of mental abilities and acquired skills (developmental regression)

Without normal BOLA3 proteins, Fe-S clusters are not created, meaning certain proteins cannot perform their normal functions. This reduces the amount of energy produced by mitochondria, contributing to the severe signs and symptoms of the syndrome. Affected individuals usually do not survive past early childhood.

Other Names for This Gene

  • bolA homolog 3
  • bolA-like protein 3
  • BOLA3_HUMAN

Frequently Asked Questions

The earliest signs of multiple mitochondrial dysfunctions syndrome type 2 often appear in infancy and include severe respiratory distress and difficulty feeding. As the condition progresses, infants may develop cardiomyopathy, which is a weakening of the heart muscle, and significant neurological issues such as encephalopathy. The progression is typically rapid and severe, with affected individuals often experiencing developmental regression, where they lose previously acquired skills. Due to the severity of the mitochondrial dysfunction, most patients do not survive past early childhood.
Diagnosis is typically based on a combination of clinical symptoms, biochemical tests, and genetic confirmation. Clinicians may observe characteristic signs such as respiratory distress and cardiomyopathy. Blood and urine tests may reveal metabolic abnormalities, such as elevated lactate levels, indicating mitochondrial dysfunction. Definitive diagnosis is achieved through genetic testing that identifies pathogenic variants in the BOLA3 gene. In some cases, mitochondrial function tests on muscle or skin cells may be performed to assess the activity of iron-sulfur cluster-dependent enzymes.
The BOLA3 protein is essential for creating and transporting iron-sulfur clusters within the mitochondria, which are the energy-producing centers of cells. Many proteins involved in oxidative phosphorylation, the process that converts food into usable energy, require these clusters to function. When the BOLA3 gene is mutated, these clusters are not formed correctly, leading to a failure in the mitochondrial respiratory chain. This results in a significant reduction in cellular energy production, which disproportionately affects energy-hungry tissues like the brain, heart, and muscles, causing the severe symptoms associated with the syndrome.
Currently, there is no cure or specific targeted therapy for multiple mitochondrial dysfunctions syndrome type 2. Management is primarily supportive and focuses on alleviating symptoms and maintaining quality of life. This may include respiratory support for breathing difficulties, cardiac medications to manage heart function, and nutritional support to address feeding issues. Because the condition is caused by a fundamental defect in mitochondrial energy production, treatments are aimed at managing the consequences of low energy availability rather than correcting the underlying genetic defect.
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.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss