Hair from patients with a rare genetic disease provide hair structural insights
What is it about?
Hair has an unusual fatty acid on its surface and in between the cuticle layers. It provides a method of allowing cuticles to naturally break away after mechanical insult to leave a fresh layer with "non-stick" properties. Maple Syrup Urine Disease (MSUD) is a rare condition where there is a deficiency in a particular enzyme that prevents branched-chain amino acids being metabolised. Consequently, isoleucine cannot be used by the body to produce this specific unusual fatty acid (18-methyleicosanoic acid, 18-MEA). Therefore, the natural cleavage plane within the cuticle structure is blocked. Hair surfaces from 10 MSUD patients have been imaged by atomic force microscopy (AFM) and cuticle breakage patterns discussed.
Why is it important?
The paper provides further support for the importance of 18-MEA in hair science.
The following have contributed to this page: Dr James R Smith