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

SPART gene

The SPART gene provides instructions for producing spartin, a protein that helps regulate cellular structures involved in protein sorting, mitochondrial function, and lipid metabolism.

Normal Function

The SPART gene produces a protein called spartin, which is found in various tissues, including the brain. Spartin plays several key roles in cellular maintenance:

  • Endosome regulation: It helps sort, transport, and recycle proteins and other materials.
  • Mitochondrial function: It supports the energy-producing centers of the cell.
  • Lipid droplet regulation: It regulates the size and number of lipid droplets, which are used for fat storage and energy.
  • Endocytosis: It may assist in transporting materials from the cell surface into the cell.

Health Conditions Related to Genetic Changes

Troyer syndrome

Variants in the SPART gene cause Troyer syndrome, a form of hereditary spastic paraplegia characterized by progressive stiffness (spasticity) and weakness of the leg muscles.

  • Mechanism: Variants reduce the amount of functioning spartin protein. Without enough normal protein, cells cannot properly break down lipid droplets.
  • Fat accumulation: The resulting buildup of fat molecules in brain cells is believed to contribute to the neurological signs and symptoms of the syndrome.
  • Genetic history: The first identified variant, found in the Old Order Amish population, involved the deletion of a single DNA building block, resulting in an abnormally short, non-functional protein.

Frequently Asked Questions

Troyer syndrome caused by SPART gene variants is inherited in an autosomal recessive pattern. This means an individual must inherit two copies of the altered gene (one from each parent) to develop the condition. Parents who each carry one copy of the altered gene are typically unaffected but are carriers. Genetic counseling is crucial for families to understand carrier status, recurrence risk, and options for family planning.
Troyer syndrome typically presents in early childhood, often between ages 1 and 2. Initial signs may include progressive stiffness (spasticity) and weakness in the leg muscles, leading to difficulties with walking, an unsteady gait, and frequent falls. Speech difficulties and mild intellectual disability can also be part of the early presentation.
Troyer syndrome is a progressive condition, meaning symptoms gradually worsen over time, leading to increased spasticity and weakness. Management focuses on symptomatic relief and maintaining function. This often involves physical therapy to improve mobility and reduce spasticity, occupational therapy for daily living skills, and sometimes medications to manage muscle stiffness. Regular neurological evaluations are important to monitor progression and adjust care.
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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