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New genes identified for fibromuscular dysplasia

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According to new studies, three new gene mutations that regulate arterial gene expression are associated with fibromuscular dysplasia, an arterial disease that can have dangerous consequences for the heart and blood vessels.

Survey results published in Nature Communications An international team of FMD experts in the United States and Europe has also confirmed the importance of a fourth genetic target that has already been identified as being involved in the disease.

“We used to be FMD Rare diseaseHowever, current estimates can affect more than 3% of the population. ” Human genetics, And a cardiologist at the University of Michigan Health Frankel Cardiovascular Center. “It is important to continue this study to better understand the causes of fibromuscular dysplasia. The disease mainly affects women in the heyday of life, and diagnoses are often severe. It takes place after dangerous cardiovascular complications such as high blood pressure, stroke, and heart. Attack. “

Researchers note that the identified genes suggest that the genetic basis of FMD may contribute through changes in the structure and function of vascular smooth muscle cells.

In particular, genetic findings correlate with some of the more common cardiovascular diseases that are often reported in parallel with FMD, such as hypertension, migraine, intracranial aneurysm, and subarachnoid hemorrhage. increase.Negative correlation with coronary artery disease in atherosclerosis, but no shared genetics confirmed Ischemic stroke, This generally also affects people with FMD.

“The findings provide new biological insights into this interesting condition and genes and pathways towards the goal of identifying therapeutic targets for FMD,” said co-senior and co-author Nabila Bouatia-. Naji, Ph.D. , The director said. Also known as the French National Institute of Health Sciences, the team leader of the Paris Cardiovascular Research Center is conducting research at the Saint-Ederales Cherschmedicale Institute of the French National Institute of Health Sciences.

The Ganesh and Buatia-Nagy team Genome-wide association study Compare with over 7,000 control samples from participants who do not use FMD out of over 1,500 FMD cases. The three new genes involved in FMD are ATP2B1, LRP1 and LIMA1, and the fourth identified gene is known as PHACTR1.

“This is the most comprehensive genetic study of foot-and-mouth disease to date, made possible by the joint efforts of our international research team,” Ganesh said.


Genetic studies reveal mutations associated with fibromuscular dysplasia


For more information:
Adrien Georges et al, a genetic study of fibromuscular dysplasia, has identified risk loci and shared genetics with common cardiovascular disease. Nature Communications (2021). DOI: 10.1038 / s41467-021-26174-2

Quote: The new gene identified in fibromuscular dysplasia (October 15, 2021) is from https://medicalxpress.com/news/2021-10-genes-fibromuscular-dysplasia.html on October 15, 2021. Was acquired by.

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New genes identified for fibromuscular dysplasia

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