FADS1

FADS1, or Fatty Acid Desaturase 1, is an enzyme encoded by the FADS1 gene in humans. It is a member of the fatty acid desaturase family, which catalyzes the introduction of double bonds into fatty acids, a process known as desaturation. FADS1 specifically desaturates linoleic acid (18:2 n-6) to gamma-linolenic acid (18:3 n-6), which is a precursor to arachidonic acid (20:4 n-6) and eicosapentaenoic acid (EPA, 20:5 n-3). This enzyme plays a crucial role in the synthesis of omega-3 and omega-6 fatty acids, which are essential for various physiological processes, including inflammation regulation, cell signaling, and brain development.

The FADS1 gene is located on chromosome 17q25.3. Mutations in this gene can lead to fatty acid desaturase deficiency, a rare genetic disorder characterized by severe neurological symptoms, including developmental delay, seizures, and intellectual disability. The deficiency results from the inability to produce sufficient amounts of gamma-linolenic acid, leading to a disruption in the synthesis of omega-3 and omega-6 fatty acids.

Research on FADS1 and its role in fatty acid metabolism continues to advance, with ongoing studies exploring potential therapeutic interventions for fatty acid desaturase deficiency and other related conditions. Understanding the function and regulation of FADS1 is essential for developing targeted treatments and improving outcomes for individuals affected by these disorders.