Typically, autosomal dominant familial hypercholesterolaemia (FH) is caused by mutations in the low density lipoprotein (LDL) receptor or apolipoprotein B genes that result in defective clearance of plasma LDL by the liver, but a third gene (PCSK9), encoding a putative proprotein convertase, has recently been implicated. Two independent microarray studies support a role for PCSK9 in sterol meta...

Uterine leiomyomas (or fibroids) are the most common tumors in women of reproductive age. Early studies of two familial cancer syndromes, the multiple cutaneous and uterine leiomyomatosis (MCUL1), and the hereditary leiomyomatosis and renal cell cancer (HLRCC), implicated FH, a gene on chromosome 1q43 encoding the tricarboxylic acid cycle fumarate hydratase enzyme. The role of this metabolic ho...

Trace metals, such as nickel (Ni), are often found associated with ferrihydrite (Fh) in soil and sediment have been shown to redistribute during Fe(II)-catalyzed transformation of Fh. Fh, however, is inhibited when natural organic matter (NOM) To explore whether NOM affects the behavior Ni we tracked distribution, Fe atom exchange, mineral Fh coprecipitated Suwannee River (SRNOM-Fh). As expecte...

Uterine fibroids, or leiomyomata, are the most common tumours in women during the reproductive years and represent a significant health issue, yet little is known about their pathogenesis. We mapped a predisposition gene for multiple fibroids, cutaneous leiomyomata and renal carcinoma to chromosome 1q42.3-q43 and refined the region of the gene by mapping critical recombinants and using FISH in ...

Human papillomavirus (HPV) infection is a major cause of cervical cancer. We sought to evaluate the efficiency of HPV DNA, E6/E7 mRNA and protein, and cell free ferrous protoporphyrin (FH) tests for cervical cancer screening. Cervical specimens were collected from 186 Chinese women simultaneously undergoing biopsy examination and HPV DNA, E6/E7 mRNA and protein, and FH tests. The sensitivity, s...

Three low-density lipoprotein receptor (LDLR) gene mutations were previously shown to cause familial hypercholesterolaemia (FH) in up to 90% of affected Afrikaners. Association of each mutation with a single chromosomal background provided molecular genetic evidence that the proposed 'founder gene effect' was responsible for the high prevalence of FH among white Afrikaners. In this study we rep...

Factor H (FH) is an abundant serum glycoprotein that regulates the alternative pathway of complement-preventing uncontrolled plasma C3 activation and nonspecific damage to host tissues. Age-related macular degeneration (AMD), atypical hemolytic uremic syndrome (aHUS), and membranoproliferative glomerulonephritis type II (MPGN2) are associated with polymorphisms or mutations in the FH gene (Cfh)...

The human complement system is the frontline defense mechanism against invading pathogens. The coexistence of humans and microbes throughout evolution has produced ingenious molecular mechanisms by which microorganisms escape complement attack. A common evasion strategy used by diverse pathogens is the hijacking of soluble human complement regulators to their surfaces to afford protection from ...

BACKGROUND Meningococcal factor H binding protein (fHbp) is a promising vaccine candidate. Anti-fHbp antibodies can bind to meningococci and elicit complement-mediated bactericidal activity directly. The antibodies also can block binding of the human complement down-regulator, factor H (fH). Without bound fH, the organism would be expected to have increased susceptibility to bacteriolysis. Here...