Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
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Case Reports
A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy.
We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested that the mutation site was near either amino acid position 58 of mature TTR or the 3' end of exon 3. ⋯ The site of this mutation is near the 3' end of exon 3, consistent with the result of NIRCA. This mutation was also confirmed by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA).
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Case Reports
Fibrinogen A alpha chain Leu 554: an African-American kindred with late onset renal amyloidosis.
An African-American kindred with renal amyloidosis is described. Four members in two generations developed nephropathy in the sixth to eighth decade of life. Kidney biopsy and subcutaneous fat aspirate biopsy of one patient revealed amyloid deposits. ⋯ The ratio between normal and variant peptides was approximately 1:1 in one patient and 3:2 in another. Although this African-American kindred has the exact same mutation as a previously described Peruvian-Mexican kindred, the onset age in this kindred is much later than in the Peruvian-Mexican kindred. This finding may indicate the existence of additional factor(s) beside the primary causative genetic mutation, which affect the expression of the disease.
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The incidence of serum amyloid A2 alleles (SAA2 alpha and SAA 2 beta) in the Japanese population was analyzed by PCR-RFLP analysis. The SAA2 alpha allele was predominant (approximately 90%) in both healthy controls and adult patients with rheumatoid arthritis. There was no significant association of allele patterns with AA amyloidosis in the patient group. These results are discussed in comparison with those of previous reports from other areas.