Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II

Article Abstract:

Amyloidosis is the accumulation of protein deposits called amyloid in various tissues; in different medical conditions, different tissues may be affected. The term amyloid was used to describe the relatively featureless starchy appearance of the deposits; amyloid is now defined by its highly characteristic staining with a particular dye, Congo red. However, amyloid is not a single substance. Despite similarities in appearance under the microscope, the chemical composition of the amyloid deposits is different for the various clinical amyloidoses. For example, the amyloid in primary systemic amyloidosis is composed of light chains or fragments of light chains of antibody molecules. Systemic amyloidosis may affect the clear cornea of the eye. There are also amyloidoses that are limited to the eye. Among these are the lattice corneal dystrophies, in which a lattice work of amyloid strands is laid down in the cornea, slowly and progressively blurring the vision. Later in life, these patients develop nerve damage and systemic amyloid. Type II lattice corneal dystrophy was first identified in Finland, and is now known to affect more than 300 patients in that country. (Lattice corneal dystrophy type II is sometimes called familial amyloidosis Finnish-type, or FAF). Techniques of molecular biology were used to identify a mutation that results in the substitution of asparagine for aspartic acid in the resulting gelsolin molecule. The study of microscopic sections of an affected cornea from an American patient has revealed the presence of the blood protein gelsolin. Researchers have demonstrated that the American patients share the same mutation in the gelsolin gene that has been identified in the Finnish patients. Gelsolin apparently participates in the cleaving of actin filaments. Actin is part of the cellular skeleton; cell movement and other functions require the remodeling of these chains of actin. However, gelsolin is also secreted into the blood, and it is this secreted form that is found in the amyloid fibrils in the cornea of the affected patients. The function of the gelsolin secreted into the blood is not known. (Consumer Summary produced by Reliance Medical Information, Inc.)

Case studies, Corneal diseases, Familial diseases

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Apolipoprotein E, dementia, and cortical deposition of beta-amyloid protein

Article Abstract:

The genes for apolipoprotein E are related to the number of beta-amyloid protein deposits in the outer layer of the brain and the epsilon 4 form of the gene is associated with Alzheimer's disease. Researchers analyzed the DNA and cerebral cortices in 92 people who were older than 85 when they died. Sixty of the people had been diagnosed with dementia before they died, and 42 of these definitely or probably had Alzheimer's. The epsilon 4 form of the apolipoprotein E gene occured in 24% of the people with dementia and 30% of the people with Alzheimer's, but only 8% of those without disease. In both people with and without dementia, high levels of beta-amyloid protein in the cortex were associated with epsilon 3 and epsilon 4 genes, but not the epsilon 2 gene. Neurofibrillary tangles were also associated with the epsilon 4 gene.

Dementia, Alzheimer's disease, Apolipoproteins

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Eprodisate for the treatment of renal disease in AA amyloidosis

Article Abstract:

A study was carried out to evaluate the efficacy and safety of eprodisate in patients with AA amyloidosis and kidney involvement. Eprodisate shows the decline of renal function in AA amyloidosis.

HEALTH SERVICES, All Other Miscellaneous Ambulatory Health Care Services, Disease Testing Programs, Health aspects, Drugs, Drug therapy, Kidney diseases, Drug evaluation, Clinical report, Eprodisate

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