Scientists find large genetic changes may increase dementia risk

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Scientists at the National Institutes of Health (NIH) have found new genetic risk factors for two types of non-Alzheimer’s dementia.

The team analyzed thousands of DNA samples and identified large-scale DNA changes, known as structural variants, that may be risk factors for Lewy body dementia (LBD) and frontotemporal dementia (FTD).

Structural Variants

Structural variants are large-scale DNA changes that make studying them challenging.

Unlike more commonly studied mutations, which affect one or a few DNA building blocks, structural variants can affect hundreds or thousands of building blocks at once.

To identify structural variants in the DNA samples, the NIH team used computer algorithms that map structural variations across the entire genome, combined with machine learning.

TCPN1 Gene

The team discovered a previously unknown variant in the TCPN1 gene in samples from patients with LBD.

TCPN1 is a known risk factor for Alzheimer’s disease, and this variant is associated with a higher risk for developing LBD.

The deletion of more than 300 nucleotides from the gene could be a target for intervention in the future.

Other Findings

The team looked at a group of 50 genes implicated in inherited neurodegenerative diseases and identified additional rare structural variants, including several that cause disease.

The researchers also identified two well-established risk factors for FTD: changes in the C9orf72 and MAPT genes.

Reference Maps

The researchers generated a catalog of structural variants based on the data obtained in the analysis.

An interactive app also allows investigators to study their genes of interest and ask which variants are present in controls versus LBD or FTD cases.

Conclusion: These findings may lead to a better understanding of the genetic architecture of non-Alzheimer’s dementias.

Researchers hope that these resources will make complex genetic data more accessible to non-bioinformatics experts, which could accelerate the pace of discovery. The dataset is expected to continue growing as more data are analyzed.

How to prevent dementia effectively

Preventing dementia involves a combination of healthy lifestyle choices and managing chronic conditions. Here are some steps that may help:

Exercise regularly: Exercise is one of the best things you can do for your brain and overall health. It helps to improve blood flow, reduce inflammation, and promote the growth of new brain cells. Aim for at least 150 minutes of moderate-intensity exercise per week.

Eat a healthy diet: Eating a balanced diet that’s rich in fruits, vegetables, whole grains, lean protein, and healthy fats can help to reduce the risk of dementia. Avoid processed foods, sugary drinks, and excess salt.

Stay mentally and socially active: Engage in mentally stimulating activities such as reading, puzzles, or learning a new skill. Social interaction with friends, family, and community can also help to keep the brain active and reduce the risk of dementia.

Manage chronic conditions: Chronic conditions such as diabetes, high blood pressure, and high cholesterol can increase the risk of dementia. Work with your healthcare provider to manage these conditions effectively.

Get enough sleep: Getting enough sleep is essential for brain health. Aim for 7-8 hours of sleep per night.

Avoid alcohol and smoking: Heavy alcohol use and smoking can increase the risk of dementia. If you choose to drink, do so in moderation, and avoid smoking.

Protect your head: Traumatic brain injury can increase the risk of dementia. Wear a helmet during high-risk activities such as biking, skiing, or playing contact sports.

It’s also important to stay up-to-date with routine healthcare appointments, such as blood pressure and cholesterol checks, and talk to your healthcare provider if you have concerns about memory or other cognitive changes.

If you care about dementia, please read studies about Vitamin B9 deficiency linked to higher dementia risk, and flavonoid-rich foods could help prevent dementia.

For more information about brain health, please see recent studies about antioxidants that could help reduce dementia risk, and Coconut oil could help improve cognitive function in Alzheimer’s disease.

The study was published in Cell Genomics.

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