Requirement of fatty acid transport protein 4 for development, maturation, and function of sebaceous glands in a mouse model of ichthyosis prematurity syndrome.

[aniridia]

Fatty acid transport protein 4 (FATP 4 ) is one of a family of six transmembrane proteins that facilitate long - and very long -chain fatty acid uptake . FATP 4 is expressed in several tissues , including skin . Mutations in human SLC 27 A 4 , which encodes FATP 4 , cause ichthyosis prematurity syndrome , characterized by a thick desquamating epidermis and premature birth . Mice lacking FATP 4 , which genetically model the human disease , are born with tight , thick skin and a defective skin barrier ; they die neonatally due to dehydration and restricted movements . Both the skin phenotype and the lethality are rescued by transgene expression of FATP 4 in suprabasal keratinocytes . Sebaceous glands in Fatp 4 null skin grafted onto nude mice were found to be dystrophic and enwrapped by thick layers of epithelial cells . Consistent with these results , transgene-rescued Fatp 4 null mice showed a subnormal level of FATP 4 expression in sebocytes and exhibited abnormal development of both sebaceous glands and meibomian glands , specialized sebaceous glands of the eyelids . Sebum from these mice contained a reduced level of type II diester wax , a major mouse sebum lipid species , and showed perturbations in mass spectrometric profiles of diester wax and cholesteryl ester species . In addition , these mice showed an impaired ability to repel water and regulate body temperature after water immersion . Taken together , our results suggest that FATP 4 plays crucial roles in the development and maturation of both sebaceous and meibomian glands , as well as in the formation and composition of sebum , likely by regulating the trafficking of fatty acids necessary for proper synthesis of sebum lipids .

Diseases
Validation

Diseases presenting "restricted movements" symptom

aniridia

You can validate or delete this automatically detected symptom