Neurodegeneration

Tyrosine hydroxylase is the rate-limiting enzyme in the synthesis pathway of the catecholamines dopamine, epinephrine, and norepinephrine.

The product of the Parkinson's disease 7 (Park7/DJ-1) gene belongs to the peptidase C56 family of proteins and appears to have two transcriptional variants. It is a positive regulator of androgen receptor-dependent transcription, and some evidence suggests it may also function as a redox-sensitive chaperone and sensor for oxidative stress. It apparently protects neurons against oxidative stress and cell death. Defects in the Park7 gene result in the autosomal recessive form of early-onset Parkinson’s disease.

Thymoquinone (2-isopropyl-5-methyl-1,4-benzoquinone, or TQ) is derived from the seeds of the black cumin plant Nigella sativa. It has been reported to have a number of beneficial properties including anti-oxidative, anti-inflammatory and anti-tumorigenic activities and, like many other natural products, derivatives and analogues of thymoquinone are being synthesised in an effort to increase its therapeutic potential.

Huntington's disease is an inherited progressive neurodegenerative disorder which impairs cognition, causes issues with movement, and has associated behavioral changes and emotional problems. There is currently no cure for Huntington's disease, but research is focused on understanding the function of the Huntington's disease gene. Learn more in our infographic below.

Alzheimer's disease is a progressive neurodegenerative disease that impacts cognitive function. Research is currently being done to understand different genetic, environmental and biological factors which contribute to the disease to find a cure. Learn more in our infographic about Alzheimer's disease below.

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Parkinson's disease affects the nervous system which controls movement. Damage to the levels of dopamine in the brain impairs the ability to relay messages to parts of the body which control movement. While the exact cause of the disease is unknown, researchers are examining genetic causes linked to the LRRK2 gene and environmental factors.

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Beclin 1 is the first mammalian gene identified as a mediator of autophagy, and plays important roles in development, tumorigenesis, and neurodegeneration.

PINK1 is a protein serine/threonine kinase (PTK) that protects the organelles from cellular stress and controls selective autophagy to clear damage. Exner, et. al. were among the first to report that PINK1 deficiency in humans was linked to autosomal recessive occurrences of Parkinson's disease (PD) and neurogenerative pathology (1).

Autophagy is a conserved mechanism whereby cells form double membrane autophagosomes to sequester cytoplasmic components for subsequent destruction by fusion with lysosomes (eukaryotes) or vacuoles (yeast). Targets of autophagy include aging proteins, damaged organelles and invasive pathogens, and the resulting breakdown products can be recycled back to the cytoplasm for re-use under conditions of starvation (1).

Alpha-synuclein is an abundant presynaptic protein expressed predominantly in brain, concentrated in presynaptic nerve terminals. Alpha-synuclein is deposited as fibrillary aggregates in neurons or glial cells which is a hallmark lesion in a subset of neurodegenerative disorders including Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (all collectively referred to as synucleinopathies).