Phospholipase C-gamma2 (PLCG2) is an enzyme mainly expressed in immune cells (including microglia) which are involved in innate immunity. PLCG2 has higher expression levels in pathologically affected brain regions in Alzheimer’s disease indicating that the immune system may play a key role in Alzheimer’s disease.
CD38 is a widely expressed multifunctional ectoenzyme catalysing multiple reactions and also has a role in signal transduction and calcium signaling. CD38 expression in the brain increases under neuroinflammatory conditions indicating a possible role in the regulation of neuroinflammation. In Alzheimer's disease, CD38 immunoreactivity is seen in intracellular tangles and neuropil threads.
Superoxide dismutase 1 (SOD1) is one of three superoxide dismutases with SOD1 being the principal cytoplasmic superoxide dismutase in humans. It binds copper and zinc ions for its activity and stability and plays a major role in redox potential regulation. SOD1 variants are a common cause of familial amyotrophic lateral sclerosis (ALS).
TREM2 (Triggering receptor expressed on myeloid cells 2) is a cell surface transmembrane glycoprotein expressed in myeloid cells including microglia. It plays a complex role in neuroinflammation with expression of TREM2 being upregulated in pathological conditions such as Parkinson's disease, Amyotrophic lateral sclerosis (ALS), stroke, traumatic brain injury and Alzheimer's Disease.
Histamine is an important messenger molecule and neuromodulator, regulating the release of several neurotransmitters, including histamine release from histaminergic neurons. Dysregulated central histaminergic signalling has been associated with a number of psychiatric disorders including sleep disorders, ADHD, Alzheimer's disease, Parkinson's disease and schizophrenia.
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Lysosomal acid glucosylceramidase (GBA or Glucocerebrosidase) is the lysosomal hydrolase. Mutations in the GBA gene cause Gaucher disease, a lysosomal storage disease characterised by an accumulation of glucocerebrosides. Patients with Gaucher disease are at increased risk of developing Parkinson's disease and Dementia with Lewy Bodies.
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