SERAC1

SERAC1 is a gene that encodes the protein serine active site containing 1. This protein is involved in the remodeling of phospholipids and plays a crucial role in the maintenance of mitochondrial function and intracellular cholesterol trafficking.

Function

The SERAC1 protein is essential for the proper functioning of the mitochondria, the energy-producing organelles in cells. It is involved in the remodeling of phosphatidylglycerol, a type of phospholipid, which is crucial for the maintenance of mitochondrial membranes and the synthesis of cardiolipin. Cardiolipin is a unique phospholipid that is important for the optimal function of several mitochondrial enzymes involved in oxidative phosphorylation.

Clinical Significance

Mutations in the SERAC1 gene are associated with a rare metabolic disorder known as MEGDEL syndrome (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome). This condition is characterized by a combination of neurological and systemic symptoms, including developmental delay, sensorineural hearing loss, and dystonia.

Symptoms

Individuals with MEGDEL syndrome may present with:

• Developmental delay
• Sensorineural hearing loss
• Dystonia
• Spasticity
• Ataxia
• Optic atrophy

Diagnosis

Diagnosis of MEGDEL syndrome is based on clinical evaluation, biochemical testing for elevated levels of 3-methylglutaconic acid in the urine, and genetic testing to identify mutations in the SERAC1 gene.

Treatment

Currently, there is no cure for MEGDEL syndrome, and treatment is primarily supportive and symptomatic. Management may include physical therapy, hearing aids, and other interventions to address specific symptoms.

Research

Ongoing research is focused on understanding the precise molecular mechanisms by which SERAC1 mutations lead to the clinical manifestations of MEGDEL syndrome. Studies are also exploring potential therapeutic approaches to mitigate the effects of these mutations.

See also

• Mitochondrial diseases
• Phospholipid metabolism
• Genetic disorders

External links

• SERAC1 gene - NCBI
• SERAC1 - OMIM