Mendelian Disorders of Membrane Trafficking

To the Editor: In their review article (Sept. 8 issue),¹ De Matteis and Luini affirmed the importance of studying disease genes to understand the physiological functions of transport proteins. They list CAV1 (caveolin-1) as a gene whose mutations are linked to congenital generalized lipodystrophy, but they neglected to include AGPAT2, BSCL2, and PTRF (cavin-1), whose mutations have also been associated with this disorder.² Along with these genes, microRNAs (miRNAs), the tiny, noncoding RNAs that regulate gene expression after transcription, should also be considered when one is attempting to position all the actors involved in membrane-trafficking diseases within pathogenetic pathways. In . . .