Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.2.1.17 (lysozyme)
 21,489 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An extremely rare case of malignant fibrous histiocytoma in the pancreas is reported. A 70-year-old man complained of upper abdominal discomfort. A tumor in the head of the pancreas was demonstrated by ultrasonography and computed tomography. The surgical specimen revealed a relatively well demarcated tumor, 9 x 7 x 6.5 cm in size. Microscopically, fibroblastic, histiocytic, and multinucleated giant tumor cells were observed in the myxoid area, but some tumor cells had proliferated in a storiform-pleomorphic pattern. Immunohistochemically, some tumor cells were positive for lysozyme, alpha-1-antitrypsin, alpha-1-antichymotrypsin, and vimentin. Electron microscopically, tumor cells showed a combination of fibroblastic and histiocytic features. The patient is currently well with no evidence of recurrence or metastasis 22 months after operation.
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PMID:Malignant fibrous histiocytoma of the pancreas. 887 8

Familial amyloidoses are a group of inherited disorders that cause deposition of misfolded amyloidogenic proteins in various tissues, resulting in organ dysfunction. Point mutations in the coding region of seven different genes are known to cause clinically significant systemic amyloid disease. We describe a new mutation in exon 2 of the lysozyme gene associated with amyloidosis (ALys) in a 61-year-old woman with a 7-year history of non-bloody, watery diarrhea, and weight loss. Biopsies of the duodenum and stomach were positive for amyloid deposits in the lamina propria and blood vessels. Direct DNA sequencing of the lysozyme gene revealed a single base nucleotide transversion from T to A at the first position of codon 54, resulting in replacement of Tyr by Asn in the mature lysozyme protein (pTyr54Asn). Immunoblot analysis of amyloid fibrils extracted from a fat tissue sample confirmed lysozyme as the amyloid protein. Clinically, the phenotype associated with this lysozyme mutation featured chronic abdominal pain, diarrhea, weight loss, malabsorption, and sicca syndrome. There was no associated nephropathy as has been reported for other ALys mutations. We describe a new mutant lysozyme that presents with abdominal discomfort, diarrhea, weight loss, and sicca syndrome.
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PMID:A new lysozyme tyr54asn mutation causing amyloidosis in a family of Swedish ancestry with gastrointestinal symptoms. 2297 55