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Severe amyloid deposition in mammary glands of familial amyloid polyneuropathy patients
Amyloid The Journal of Protein Folding Disorders, 09/10/08
Tokuda T et al. - These findings raise the possibility that milk from familial amyloid polyneuropathy (FAP) mothers contains ATTR-derived amyloid fibrils and/or fragments, which might be causally related to the development of genetic anticipation in this disease.
Methods- Aim was to investigate the precise pathogenesis of FAP
- Biopsied mammary glands obtained from 3 female ATTRVal30Met FAP pts who were of gestation age were examined
- Amyloid deposition was commonly seen in the glands
- In 2 pts with apparent FAP symptoms, heavy deposits of amyloid surrounded many lactiferous alveoli and ducts, where some deposits faced the central lumens
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