Sunday December 8, 2019

Mutations in Genes Associated with Heart Disease: Study

The study was presented at the 2019 American Heart Association Scientific Sessions in Philadelphia, US

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Genes
Apart from Genes, Researchers also identified lifestyle, environmental and other disease factors documented in the medical records that are associated with heart problems, like high blood pressure, diabetes, a history of alcohol or drug abuse, or previous chemotherapy treatment. Pixabay

Researchers have identified new mutations in Genes that is commonly associated with non-ischemic dilated cardiomyopathy (NIDC), a disease that weakens the heart muscle, making it more difficult to adequately circulate blood to meet the body’s needs.

Patients with NIDC struggle because the heart’s ability to pump blood is decreased, as the heart’s main pumping chamber, the left ventricle, is enlarged and dilated.

Unlike other kinds of heart conditions, NIDC often isn’t related to or a symptom or sign of a known cardiovascular disease or disease risk factor.

In the study, researchers from the Intermountain Healthcare Heart Institute in the US, have identified 22 mutations in 27 of 229 NIDC patients in a gene called TITIN — 15 of them not previously discovered.

These TITIN mutations are of a type called “truncating variants”, or TTN-tv, which are linked with the development of cardiomyopathy and heart failure.

“Truncating mutations in TITIN are common in NIDC, so we wanted to know: if we find one, should we be more, or less worried about the patient’s prognosis? The answer is yes,” said principal investigator of the study Jeffrey L. Anderson.

In the study, the DNA samples of the 229 Intermountain patients diagnosed with NIDC were analysed.

Researchers also identified lifestyle, environmental and other disease factors documented in the medical records that are associated with heart problems, like high blood pressure, diabetes, a history of alcohol or drug abuse, or previous chemotherapy treatment.

Patients were evaluated when they first presented and then were followed for five years.

Genes
Researchers have identified new mutations in Genes that is commonly associated with non-ischemic dilated cardiomyopathy (NIDC), a disease that weakens the heart muscle, making it more difficult to adequately circulate blood to meet the body’s needs. Pixabay

Patients with a TTN-tv mutation more often had severe cardiomyopathy at presentation, and by five years they were less likely to have recovered (11 per cent of those with a mutation versus 30 per cent of those without).

These patients also were more likely to have shown progressive disease, such as a heart transplant, implant of a permanent heart assist device, or death if they had a TTN-tv mutation (41 per cent) than if they didn’t (25 per cent).

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TTN-tv mutation patients also commonly were found to have non-genetic predisposing factors, suggesting that these other factors may act in concert with genetic factors to precipitate heart failure.

The study was presented at the 2019 American Heart Association Scientific Sessions in Philadelphia, US. (IANS)

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Genetic Variations Influence Risk of Developing Cancer: Study

Study found that variations in the regions that regulate the expression of oncogenes and tumour suppressor genes affect cancer risk

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Cancer
While minor genetic changes only have a small impact on Cancer risk, the variations analysed in this study are numerous and common in the population. Pixabay

Shedding new light on why some people develop cancer while others do not, a new study has found that a person’s risk of developing cancer is affected by Genetic variations in regions of DNA that do not code for proteins, previously dismissed as “junk DNA”.

This study, published in the British Journal of Cancer, shows that inherited cancer risk is not only affected by mutations in key cancer genes, but that variations in the DNA that controls the expression of these genes can also drive the disease.

The researchers believe that understanding how non-coding DNA affects the development of this disease could one day improve genetic screening for cancer risk.

And in the future, this could lead to new prevention strategies, or help doctors diagnose the disease earlier, when it is more likely to be treated successfully.

“What we found surprised us as it had never been reported before — our results show that small genetic variations work collectively to subtly shift the activity of genes that drive cancer,” said lead researcher of the study John Quackenbush, Professor at Harvard T.H. Chan School of Public Health in the US.

Genetic
Shedding new light on why some people develop Cancer while others do not, a new study has found that a person’s risk of developing cancer is affected by genetic variations in regions of DNA that do not code for proteins, previously dismissed as “junk DNA”. Pixabay

“We hope that this approach could one day save lives by helping to identify people at risk of cancer, as well as other complex diseases,” Quackenbush said.

The researchers investigated 846 genetic changes within non-coding stretches of DNA, identified by previous studies as affecting cancer risk.

These Single Nucleotide Polymorphisms (SNPs) are particular positions in the human genome where a single letter of the genetic code varies between people.

Unlike mutations in coding DNA, such as BRCA, that are rare but significantly raise a person’s risk of developing cancer, non-coding SNPs are relatively common in the population but only slightly increase cancer risk.

The team analysed whether there was a correlation between the presence of a particular SNP and the expression of particular genes.

In total, they looked at over six million genetic variants across 13 different body tissues.

Genetic
The researchers believe that understanding how non-coding DNA affects the development of this disease could one day improve genetic screening for cancer risk. Pixabay

They found that variations in the regions that regulate the expression of oncogenes and tumour suppressor genes affect cancer risk.

The study also revealed that these cancer-risk SNPs tend to be specifically located in regions that regulate the immune system and tissue-specific processes — highlighting the importance of these cellular processes to the development of cancer.

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“While minor genetic changes only have a small impact on cancer risk, the variations analysed in this study are numerous and common in the population,” said Emily Farthing, senior research information manager at British charity Cancer Research UK. (IANS)