Ichthyosis, spastic quadriplegia, and impaired intellectual development (ISQMR) is an autosomal recessive neuro-ichthyotic disease characterized by congenital ichthyosis, seizures, mental retardation, and spasticity. It has been reported that mutations in ELOVL4 cause this disease. ELOVL4 is essential for the synthesis of epidermal very long chain fatty acids (VLCFAs), and is required for generating omega-O-acylceramides, a key ceramide molecular species that is essential for permeability barrier function. In addition, VLCFAs are essential components of the sphingolipids that make up 30% of the myelin sheath of the brain.
Vasireddy V, Uchida Y, Salem N Jr, Kim SY, Mandal MN, Reddy GB, Bodepudi R, Alderson NL, Brown JC, Hama H, Dlugosz A, Elias PM, Holleran WM, Ayyagari R
タイトル
Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death.
