Genetic basis of peripheral vascular disease

NewsBot · Feb 22, 2008

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ScienceDaily are reporting:
Genetic Mutation Found In Peripheral Artery Disease

ScienceDaily (Feb. 22, 2008) — A tiny handful of genes appears to hold important clues to understanding why some patients with peripheral artery disease (PAD) face high rates of amputation and early death while others are spared those consequences, say researchers at Duke University Medical Center.

The finding, appearing online in the journal Circulation, is the first to document a genetic mutation linked to PAD. Although the work was done in mice, researchers say it is likely to give them new insight into how PAD develops and progresses in humans.

Dr. Brian Annex, professor of medicine and director of vascular medicine at Duke, says the study stemmed directly from his clinical experience. "Over and over, I'd see two patients show up at the same time. They would be the same sex, same age, have identical risk factors and have similar blockages in their arteries. One of them would experience very slow progression of the disease, while the other would face limb loss or death within six months. I just knew there just had to be a genetic basis for it."

Peripheral arterial disease occurs when major arteries in the legs become clogged with plaque, a fatty build-up that's similar to the deposits in coronary arteries that can lead to a heart attack. Symptoms range from leg pain brought on by walking that goes away with rest -- that's the more benign form of the disease -- to a more serious form, marked by continuous pain and sores and ulcers on the legs that often lead to amputation.

Annex says the mild form rarely progresses into the more severe form. "In reality, we may be looking at two types of diseases, although we've always thought of PAD as one.".....
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NewsBot · Feb 22, 2008

NewsBot said: ↑

The finding, appearing online in the journal Circulation
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A Quantitative Trait Locus (LSq-1) on Mouse Chromosome 7 Is Linked to the Absence of Tissue Loss After Surgical Hindlimb Ischemia
Circulation. [Published Online]

Background—Peripheral arterial disease (PAD) caused by occlusive atherosclerosis of the lower extremity has 2 major clinical manifestations. Critical limb ischemia is characterized by rest pain and/or tissue loss and has a 40% risk of death and major amputation. Intermittent claudication causes pain on walking, has no tissue loss, and has amputation plus mortality rates of 2% to 4% per year. Progression from claudication to limb ischemia is infrequent. Risk factors in most PAD patients overlap. Thus, we hypothesized that genetic variations may be linked to presence or absence of tissue loss in PAD.

Methods and Results—Hindlimb ischemia (murine model of PAD) was induced in C57BL/6, BALB/c, C57BL/6xBALB/c (F1), F1xBALB/c (N2), A/J, and C57BL/6J-Chr7A/J/NaJ chromosome substitution strains. Mice were monitored for perfusion recovery and tissue necrosis. Genome-wide scanning with polymorphic markers across the 19 murine autosomes was performed on the N2 mice. Greater tissue loss and poorer perfusion recovery occurred in BALB/c than in the C57BL/6 strain. Analysis of 105 N2 progeny identified a single quantitative trait locus on chromosome 7 that exhibited significant linkage to both tissue necrosis and extent of perfusion recovery. Using the appropriate chromosome substitution strain, we demonstrate that C57BL/6-derived chromosome 7 is required for tissue preservation.

Conclusions—We have identified a quantitative trait locus on murine chromosome 7 (LSq-1) that is associated with the absence of tissue loss in a preclinical model of PAD and may be useful in identifying gene(s) that influence PAD in humans.
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Admin2 · Feb 22, 2008

Related threads:
Peripheral Vascular Disease: Diagnosis and Treatment
Growth of new cells in PVD
Screening for PVD in diabetes
Laser therapy for PVD in diabetes
Exercise for intermittent claudication
Accupressure for peripheral vascuar disease
PVD can be masked by neurological and orthopaedic diseases
PVD and ground reaction forces
Automated PVD assessment
Arterial re-plumbing

kerry naylor · Feb 23, 2008

"that's the more benign form of the disease -- to a more serious form, marked by continuous pain and sores and ulcers on the legs that often lead to amputation."

HUH!! I thought we might be seeing ulcers primarily on the feet not Legs?? Am i missing something-I am trying to feed two small children rock cakes and read this at the same time...:dizzy:

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