Indian patients carry a lot of BSN gene mutations
The BSN gene, also known as Bassoon, encodes a large scaffolding protein found in nerve cells, particularly concentrated in the synapses of neurons. It plays a crucial role in the organization and functioning of synaptic connections, essential for proper neurotransmitter release and synaptic transmission. Mutations in the BSN gene have been associated with neurological disorders such as autism spectrum disorders, schizophrenia, and epilepsy, indicating its significance in brain function and development. BSN’s structural and regulatory roles within synapses make it a key player in maintaining neuronal communication and synaptic plasticity, crucial for various cognitive and behavioral processes.
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“South Asian populations remain particularly underrepresented in Parkinson’s disease genetics studies,” the researchers have said. “To date, common variants in 90 independent risk loci, discovered via genome-wide association studies (GWAS), and rare variants in more than 20 genes have been associated with the disease. However, most genetics studies of PD have been conducted in individuals of European ancestry,” they have added.
India shares around 10% of the global burden of Parkinson’s disease
Parkinson’s disease (PD) is a progressive neurological disorder characterized by the gradual degeneration of dopamine-producing neurons in the brain. This leads to a range of motor symptoms such as tremors, rigidity, bradykinesia (slowness of movement), and postural instability. Non-motor symptoms like cognitive impairment, mood disturbances, and autonomic dysfunction may also occur. The exact cause of PD is unknown, but a combination of genetic, environmental, and age-related factors is implicated. According to the Global Burden of Disease Study (2018), Parkinson’s has doubled across the globe over the past two decades, while India accounts for approximately 10 per cent of the global burden. This translates to nearly 0.58 million patients living with the disease in the country.
Risk factors of Parkinson’s disease
Parkinson’s disease (PD) risk factors include both genetic and environmental elements. Age is the primary risk factor, with incidence rising with advancing age. Genetic predisposition contributes, with mutations in genes like LRRK2 and SNCA being implicated. Environmental factors such as exposure to pesticides, herbicides, and heavy metals like lead and manganese may increase risk. Head trauma and certain occupations, like farming or welding, are associated with higher PD risk. Additionally, factors like sex (men are slightly more prone), rural living, and certain lifestyle choices like smoking or caffeine consumption have been linked to altered PD risk, though mechanisms remain complex.