elastin and Fibromuscular-Dysplasia

The aim of this study was to conduct a formal pedigree analysis of the involvement of the elastin gene in families. From 140 subjects with renal FMD documented on angiography, family cases with documented renal artery fibromuscular dysplasia (FMD) and to test pedigrees were constructed and familial cases defined by angiographic evidence of FMD in at least one sibling. Familial screening was made either by echodoppler for asymptomatic subjects or by digital intravenous angiography for hypertensive subjects. Linkage analysis at the elastin gene locus was performed in these families with two polymorphic markers: one diallelic RFLP located in exon 16 and one multiallelic CA repeat located in intron 17 of the elastin gene. Fourteen pedigrees (10%) were obtained including nine sibling pairs, four trios and one vertical transmission from a father to his daughter. Most affected subjects were females (84%) but familial cases were more frequently bilateral than sporadic cases (80% vs 49%, p = 0.07). Pedigrees analysis was compatible with an autosomal dominant mode of inheritance and suggested in these families an age and sex-dependent incomplete penetrance model. Linkage analysis resulted in a maximum two-point lod score of 0.06 at theta = 0.20 using the dinucleotide CA repeat. Analysis of the diallelic marker revealed similar frequencies in affected and non affected subjects. This study highlights the role of genetics factors in approximately 10% of FMD cases. The elastin gene does not seem to be involved in the pathogenesis of FMD.

Topics: Adult; Aged; Elastin; Female; Fibromuscular Dysplasia; Genetic Linkage; Genetic Markers; Genotype; Humans; Male; Middle Aged; Pedigree; Polymorphism, Restriction Fragment Length; Renal Artery Obstruction

Fibromuscular dysplasia (FMD) was found in the intramuscular arteries of both commercial (normal) and mutant (LWC) strains of Japanese quail. The mutant strain LWC is afflicted with an inherited muscular dystrophy exhibiting myotonia. The arterial lesions were classified as medial fibroplasia or medial hyperplasia, both being subtypes of medial FMD. Some lesions showed extensive proliferation of medial smooth muscle into the vascular lumen, resulting in partial occlusion of the affected blood vessel. FMD occurred more frequently in the mutant LWC quail than in the commercial strain. Ischaemic changes were absent in the associated muscle structures in both strains. The significance of FMD in relation to the skeletal muscle changes in the mutant LWC strain remains unclear.

Topics: Animals; Arteries; Coturnix; Elastin; Fibromuscular Dysplasia; Muscle, Skeletal; Mutation; Myoclonus

Fibromuscular dysplasia (FMD) was found in 24 of 31 turkeys studied. This is the first species other than man in which FMD has been reported. FMD in turkeys simulates lesions variously known as fibromuscular dysplasia, fibromuscular hyperplasia, and medial hyperplasia in man. It occurred in turkeys from 8 weeks to 1 year of age and was evenly distributed between the sexes (11 males, 13 females). FMD in turkeys is a disease of arterioles and small arteries 44 mu to 666 mu in diameter. A lesion of more than 2.6 mm in length (in an artery 0.1 mm in diameter) was encountered. An adherent thrombus over 670 mu long was seen attached to an FMD lesion. Angiopathy appears to be basic to the pathogenesis of FMD and is characterized by endothelial hyperplasia, smooth-muscle vacuolization, and patchy necrosis of the media.

Topics: Animals; Arterial Occlusive Diseases; Arteries; Disease Models, Animal; Elastin; Female; Fibromuscular Dysplasia; Male; Muscles; Musculoskeletal System; Turkeys