Structural Abnormalities in the Hair of a Patient With a Novel Ribosomopathy
March 2016
in “
PLoS ONE
”
TLDR The patient's hair was thinner and had fewer lipids due to a genetic mutation.
The study characterized the hair of a patient with a novel ribosomopathy due to a mutation in the RPS23 gene, which affected the 40S ribosome subunit. The patient exhibited symptoms such as hypotonia, autism, extra teeth, elastic skin, and thin/brittle hair. Using optical microscopy, tensile tests, and X-ray diffraction, researchers found the patient's hair was 22% thinner compared to family members, although the Young's modulus was unchanged. X-ray diffraction indicated a 20% reduction in lipids in the cell membrane complex, explaining the hair's altered properties. These findings could aid in diagnosing similar mutations in the future.
