Meyahealth
HomeGeneticsGeneSUCLA2 gene
Back to Gene
SUCLA2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SUCLA2 gene

The SUCLA2 gene provides instructions for creating a critical component of an enzyme involved in cellular energy production and the maintenance of mitochondrial DNA.

Overview

The SUCLA2 gene provides instructions for making the beta subunit of an enzyme called succinyl-CoA ligase. The body produces two versions of this enzyme; the version containing the SUCLA2 beta subunit is most active in tissues with high energy demands, such as the brain and muscles.

Succinyl-CoA ligase functions within the mitochondria, the energy-producing centers of the cell. It is a key participant in the citric acid cycle (or Krebs cycle), a series of chemical reactions that allow cells to utilize oxygen to generate energy. Additionally, research indicates that this enzyme interacts with nucleoside diphosphate kinase to produce and maintain mitochondrial DNA (mtDNA), which is essential for normal cellular energy production.

Health Conditions Related to Genetic Changes

SUCLA2-related mitochondrial DNA depletion syndrome

Variants (mutations) in the SUCLA2 gene cause this inherited disorder, which impacts early brain development. These variants alter the structure of the beta subunit, reducing the enzyme's activity.

  • Mechanism: A deficiency of normal succinyl-CoA ligase impairs the production and maintenance of mtDNA, particularly in the developing brain and muscles.
  • Impact: The resulting mtDNA depletion reduces energy production within cells, leading to symptoms such as weak muscle tone (hypotonia) and delayed development.

Leigh syndrome

The SUCLA2 gene is also associated with Leigh syndrome, a condition characterized by progressive neurological deterioration.

Other Names for This Gene

  • A-BETA
  • A-SCS
  • ATP-specific succinyl-CoA synthetase, beta subunit
  • SCS-betaA
  • succinate-CoA ligase beta subunit
  • succinate-CoA ligase, ADP-forming, beta subunit

Frequently Asked Questions

There is no specific diet that cures the underlying genetic defect, but managing metabolic stability is crucial. Clinicians often recommend avoiding prolonged fasting, as this can stress mitochondrial energy production and trigger metabolic crises. Some patients may benefit from a low-carbohydrate, high-fat diet (such as a modified ketogenic diet) to provide an alternative energy source, though this must be carefully supervised by a metabolic specialist. Physical therapy and occupational therapy are also essential to maintain muscle tone and prevent contractures.
Diagnosis typically begins with clinical observation of symptoms such as hypotonia (floppiness), developmental delays, and feeding difficulties. Confirmatory testing involves genetic sequencing of the SUCLA2 gene to identify specific pathogenic variants. Additionally, biochemical tests may show elevated levels of certain metabolites in the blood or urine, and muscle biopsy or brain imaging (MRI) can reveal characteristic patterns of mitochondrial dysfunction and energy production deficits.
SUCLA2-related mitochondrial DNA depletion syndrome is inherited in an autosomal recessive pattern. This means a child must inherit two mutated copies of the gene, one from each parent, to develop the condition. Parents are usually asymptomatic carriers. If both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected, a 50% chance the child will be a carrier, and a 25% chance the child will not carry the mutation. Genetic counseling is recommended for family planning.
The deficiency impairs the production and maintenance of mitochondrial DNA, which is critical for high-energy tissues like the brain. This often leads to progressive neurological deterioration, including seizures, loss of motor skills, and cognitive impairment. In severe cases, it can progress to Leigh syndrome, characterized by specific areas of brain damage visible on MRI. Outcomes vary, but many individuals experience significant disability, requiring ongoing support for mobility, communication, and daily living activities.
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.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ