A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis.

Article Details

Citation

Yazaki M, Varga J, Dyck PJ, Benson MD

A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis.

Amyloid. 2002 Dec;9(4):268-71.

PubMed ID
12557757 [ View in PubMed
]
Abstract

We report a 40-year-old woman with a new transthyretin (TTR) variant, glutamine replacing leucine at residue 55 (Leu55Gln), who showed progressive somatic and autonomic neuropathy, glaucoma, and vitreous opacities. Symptoms of glaucoma appeared prior to the onset of the neuropathy. Sural nerve biopsy revealed amyloid deposition in the endoneurium, and immunohistochemical analysis was positive with anti-human TTR. Sequencing of the patient's DNA revealed the substitution of A for T at the second position of codon 55 of the TTR gene indicating an amino acid change from leucine to glutamine.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
TransthyretinP02766Details