Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis.
We measured quantitatively the mRNA levels of intracellular and secretory forms of gelsolin, an actin-modulating protein, in human tissues from subjects of different ages. The intracellular gelsolin mRNA constituted the major type of gelsolin steady-state mRNA in all tissues analyzed. Both forms of gelsolin were expressed in most adult tissues, with particularly high mRNA levels in all types of muscle and interestingly in skin. Between the adult and infantile tissues the most striking difference in expression levels was found in liver, as the adult liver contained only a subtle amount of gelsolin mRNA. Skin and muscle samples from patients with gelsolin-related amyloidosis (FAF), with significantly increased concentrations of serum gelsolin, did not reveal an increased expression of the gene, and both mutant and wild-type alleles were expressed in equal amounts. The high level of expression of the gelsolin gene in the skin in general could locally contribute to the characteristic skin amyloidosis in FAF patients.
Paunio
T
T
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland. tiina.paunio@ktl.fi
Kangas
H
H
Kiuru
S
S
Palo
J
J
Peltonen
L
L
Syvänen
A C
AC
D000328:Adult; D000368:Aged; D000686:Amyloidosis / Q000235:genetics* / Q000378:metabolism; D005260:Female; D018260:Gelsolin / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics* / Q000378:metabolism
D018260:Gelsolin; D012333:RNA, Messenger