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General Information
Name
amyloidosis, familial visceral, LYZ-related
FlyBase ID
FBhh0000350
OMIM
Overview

This report describes amyloidosis, familial visceral, LYZ-related, which is a subtype of familial visceral amyloidosis (see OMIM:105200); this disease exhibits autosomal dominant inheritance. The human gene implicated in this disease is lysozyme (LYZ), which is an antibacterial agent that catalyzes the hydrolysis of mucopolysaccharides of bacterial cell walls. There are multiple lysozymes in both human and in Drosophila. Modeling of LYZ-related amyloidosis in flies has been done using transgenic constructs of the human gene.

Multiple UAS constructs of the human Hsap\LYZ gene have been introduced into flies, including the soluble wild-type variant and several amyloidogenic lysozyme variants implicated in familial visceral amyloidosis. Using comparable transgenic insertions and GAL4 drivers, the wild-type variant is found at much higher levels in the hemolymph; high levels of expression of the wild-type form in all tissues results in pupal lethality. For the disease-implicated variants, but not for the wild-type human gene, expression in the adult eye results in a rough-eye phenotype; this provides a tractable system for further characterization.

Variant(s) implicated in human disease tested (as transgenic human gene, LYZ): F57I (F75I), D67H (D85H), and I56T (I74T) variant forms have been introduced into flies.

[updated Jan. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: amyloidosis, familial visceral
Symptoms and phenotype
A hereditary generalized amyloidosis in which viscera are particularly affected; there is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. (UniProt:P61626; 2016.07.29)
Specific Disease Summary: amyloidosis, familial visceral, LYZ-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Lysozyme amyloidosis is a disease of the GI tract, liver and kidneys, and typically has a slow natural history. (Sattianayagam, et al., 2012; pubmed:21988333)
Genetics
Lysozyme amyloidosis (ALys) is a form of hereditary systemic non-neuropathic amyloidosis, which is inherited in an autosomal dominant fashion. The amyloidogenic precursor protein in ALys is lysozyme. (Sattianayagam, et al., 2012; pubmed:21988333)
Cellular phenotype and pathology
Molecular information
Lysozyme cleaves bacterial cell wall peptidoglycan; it is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears (Gene cards, LYZ; 2016.07.29).
Lysozyme catalyzes the hydrolysis of certain mucopolysaccharides of bacterial cell walls. It is found in spleen, lung, kidney, white blood cells, plasma, saliva, milk, and tears. [from OMIM:153450; 2016.07.29]
External links
Disease synonyms
lysozyme amyloidosis
amyloidosis, familial renal
ALys
amyloidosis, renal
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
Symbol / Name
Comments on ortholog(s)
Many to many: there are multiple lysozymes in both human and Drosophila. The fly genes most closely related to human LYZ are LysP and LysE.
Other mammalian ortholog(s) used
    D. melanogaster Gene Information (0)
    Synthetic Gene(s) Used (0)
    Summary of Physical Interactions (0 groups)
    Alleles Reported to Model Human Disease (Disease Ontology) (3 alleles)
    Models Based on Experimental Evidence ( 2 )
    Modifiers Based on Experimental Evidence ( 2 )
    Genetic Tools, Stocks and Reagents
    Sources of Stocks
    Contact lab of origin for a reagent not available from a public stock center.
    Bloomington Stock Center Disease Page
    Selected mammalian transgenes
    Allele
    Transgene
    Publicly Available Stocks
    Selected Drosophila transgenes
    Allele
    Transgene
    Publicly Available Stocks
    RNAi constructs available
    Allele
    Transgene
    Publicly Available Stocks
    Selected Drosophila classical alleles
    Allele
    Allele class
    Mutagen
    Publicly Available Stocks
    References (6)