Ppt2-flox Mouse

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Ppt2, or palmitoyl protein thioesterase 2, is a lysosomal thioesterase. It is highly associated with metabolism [1,2]. In fungi like Candida albicans, Ppt2 (phosphopantetheinyl transferase) is essential for growth as it transfers the phosphopantetheinyl group of coenzyme A to the acyl carrier protein Acp1 in mitochondria for lipoic acid synthesis, which is crucial for fungal respiration [3,5].

In mouse models, disruption of PPT2 causes an unusual lysosomal storage disorder with neurovisceral features. PPT2-deficient mice show a neurodegenerative phenotype with spasticity and ataxia by 15 months. There are also visceral manifestations such as infiltration of the bone marrow by autofluorescent macrophages, splenomegaly due to extramedullary hematopoiesis, and lipofuscin pigment storage in the exocrine cells of the pancreas [4]. In addition, both PPT1 and PPT2 knockout mice develop spasticity, with motor abnormalities leading to death in PPT1 knockout mice by 10 months, while most PPT2 knockout mice are alive at 12 months. Autofluorescent storage material is present in the brains of both strains [6].

In conclusion, Ppt2 is important in metabolism and its deficiency in mouse models leads to a neurodegenerative disorder with visceral features. These mouse models have revealed the role of Ppt2 in neurodegeneration and related pathological processes, highlighting its potential significance in understanding certain human diseases [4,6].