Single cell RNA sequencing uncovers new mechanisms of heart disease

Microscopy of muscle cells in the normal heart (left) and muscle cells in the patient’s heart with hypertrophic cardiomyopathy (right). The oral cavity is a single muscle. The muscle cells of a patient with hypertrophic cardiomyopathy are larger, and there is more space between the cells (green), which is filled with tissues in patients with hypertrophic cardiomyopathy. Blue indicates where the DNA of a cell can be found. Credit: Anne de Leeuw, Hubrecht Copyright Center

Hypertrophic cardiomyopathy is a disease of the heart that causes stress, inflammation of the heart muscle. Due to a lack of understanding of the methods below, effective clinical treatments are not available. Patients receive cardiac treatment as a whole and sometimes require open heart surgery to remove the muscle tissue. Researchers at the Hubrecht Center have now successfully used the revolutionary technology (scRNA-seq) to identify the underlying pathogens, including those that cause inflammation. The “big data” set is a treasure trove of observations that shed light on hypertrophic heart disease and the potential for new therapeutic sites. The results of this study, conducted by researchers in the team Eva van Rooij, are published in the journal Cell Report on May 10.

The heart needs to pump every minute of every day. In patients with hypertrophic cardiomyopathy (HCM), this pump function is weak due to defects in one of the cells that make the red signal. This results in an internal stress response muscle cells and inflammation heart muscle to make up for lost work. As a result, patients may experience menopause heart disease symptoms such as shortness of breath, chest pain and arrhythmia. To date, the development of HCM therapy has been hampered by a lack of understanding of these phenomena.


Surgery on HCM patients to remove excess coronary artery bypass grafting blood flow it provides a unique opportunity for researchers because they can use extracted tissue to study the disease. Researchers at the Hubrecht Institute are now using the latest single sequencing RNA (scRNA-seq) technology on this tissue to unlock the original HCM. One of the researchers, Martijn Wehrens, stated: “Humans contain about 30,000 cells, approximately 30,000 cogwheels, each of which has a role to play in the functioning of our body. Typically, research focuses on a few of the genes, which have been found to be important after years of research. ScRNA-seq technology can quantify the activity of all 30,000 cogwheels at the same time to understand their role in the disease. “

The main feature that makes scRNA-seq strong, is that it can look at a single cell. The human body, as well as the heart, contains many components cell typelike muscle cells, blood cells, Blood cells, etc. Each cell has its own unique characteristics. Wehrens: “Searching for this meat is like looking at a picture where a cat, dog and bird come together. You never know what’s going on. During our scRNA-seq study, the cells split apart, just like we he can see what’s going on in the heart, like sharing pictures of a cat, a dog and a bird to individuals. ”

Sequencing of single RNA cells opens up new pathways in heart disease

Sequencing RNA single cell makes it easy to study hundreds of cells and thousands of cells at once. Much of the information generated by scRNA-seq allows the identification of new genetic features that lead to the development of hypertrophic heart disease. Credit: Anne de Leeuw and Martijn Wehrens, Hubrecht Copyright Center

Large amount of data

The use of technology on cardiac output from surgery allows researchers to identify changes that occur in the heart during the course of the disease. They discovered a number of new regulatory interactions between organisms, and major regulatory players. A new novelty is that the researchers recorded cell inflammation during their study, which allowed them to identify the genes that cause inflammation associated with the disease. This knowledge can be used to develop new medicines. Medications given to HCM patients are currently expected to work less efficiently, thus preventing further damage. Utilizing the vast amount of data provided by this research, new drugs can be developed that actually address the underlying causes, and retain heart function while minimizing the progression of the disease.

Researchers have found a heart attack monitor unexpectedly

Learn more:
Martijn Wehrens et al, Single-cell transcriptomics sheds light on hypertrophic cardiomyopathy, Cell Report (2022). DOI: 10.1016 / j.celrep.2022.110809

Its formation
Hubrecht Center

hint: Single RNA Sequence Unlocks New Cardiovascular Diseases (2022, May 11) Retrieved 11 May 2022 from .html

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