OBJECTIVETo investigate the feasibility of adipogenesis from human hair keratin (HHK) material, so as to provide a new method for fat defect and depression deformity.

METHODS3 Tibet mini-pigs were used. 8 fat defects (1.5 cm in diameter) were made bilaterally on the back. The ball-shaped HHK material was implanted to repair the defects at one side. The defects at contralateral side were as controls. The absorption of the HHK material and adipogenesis were studied histologically.

RESULTS2 weeks after implantation, connective tissue and capillary grew into the porous HHK material. 4 weeks after implantation, HHK material was almost totally absorbed, leaving some material debris and foreign body granuloma. Around them, there were clusters of adipocyte. 6 weeks after implantation, the HHK material was totally degraded and the granuloma was disappeared, and then de novo adipose tissue was observed. Its volume was close to the volume of peripheral HHK material that was planted originally. 10 weeks later, the new-formed fat tissue had less fibres and was very similar to the normal fat.

CONCLUSIONSNew adipose tissue can be formed after HKK material implantation. It can also be remodeled to be similar to normal fat.

Absorbable Implants ; Adipose Tissue ; injuries ; physiopathology ; Animals ; Disease Models, Animal ; Humans ; Keratins, Hair-Specific ; pharmacokinetics ; Swine ; Swine, Miniature

BACKGROUNDMonilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. In this study, we collected a Han monilethrix family to detect the mutations in patients and investigated the correlation between the genotype and phenotype of monilethrix.

METHODSIn this study, we identified a Chinese family with monilethrix through light microscopic and scanning electron microscopic (SEM) examination. Genomic DNA from peripheral blood samples was prepared. DNA samples from controls and monilethrix patients were subject to polymerase chain reaction (PCR) amplification. Two pairs of primers were used to amplify the seventh exon of KRT86. Mutation screening of the PCR products was detected using direct sequencing.

RESULTSLight microscopic examination showed a regular alternate enlargement and narrow area. SEM examination showed that part of the cuticle of the nodules shed and disappeared gradually in the narrow area with granular protrusions on the surface similar to the erosion-like structure. Parallel longitudinal ridge and groovepattern appeared, and the ridges varied in width, like dead wood. A heterozygous transversion mutation c.1204G > A (p.E402K) in the seventh exon of KRT86 was identified in both patients.

CONCLUSIONSThe mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix, and is a mutation hot spot of KRT86. Further research is needed to explore the relationship between the phenotype and the mutation of the type II hair keratin gene KRT86 of monilethrix.

Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Humans ; Keratins, Hair-Specific ; genetics ; Keratins, Type II ; genetics ; Microscopy, Electrochemical, Scanning ; Monilethrix ; etiology ; genetics ; pathology ; Mutation