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FB2026_01
,
released March 12, 2026
This report describes amyloidosis, hereditary systemic 5, which is a subtype of hereditary systemic amyloidosis (see MIM: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 may 2025 by FlyBase; FBrf0222196]
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)
[AMYLOIDOSIS, HEREDITARY SYSTEMIC 5; AMYLD5](https://omim.org/entry/620658)
[LYSOZYME; LYZ](https://omim.org/entry/153450)
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)
Hereditary systemic amyloidosis-5 (AMYLD5) is a rare amyloidosis that can affect the viscera, with severe involvement when located in the kidneys and liver. Renal dysfunction of varying severity may be the predominant manifestation. Massive hepatic hemorrhage constitutes the other severe visceral involvement. Dermatologic manifestations are rare (summary by Granel et al., 2005; pubmed:15745733). The various forms of hereditary systemic amyloidosis that do not have peripheral neuropathy as part of the clinical syndrome had been referred to as 'Ostertag type' (Benson, 2005; pubmed:16011983). [from MIM:620658; 2025.05.28]
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)
Hereditary systemic amyloidosis-5 (AMYLD5) is caused by heterozygous mutation in the LYZ gene on chromosome 12q15. [from MIM:620658; 2025.05.28]
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. Specifically, it catalyzes the hydrolysis of the bacterial cell wall beta(1-4) glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine. It is found in spleen, lung, kidney, white blood cells, plasma, saliva, milk, and tears. [from MIM:153450; 2025.05.28]
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 MIM:153450; 2016.07.29]