AI News, Diagnostics of genetic cardiac diseases using stem cell-derived cardiomyocytes

Diagnostics of genetic cardiac diseases using stem cell-derived cardiomyocytes

iPSC-derived cardiomyocytes can be derived from a blood sample or a skin biopsy.

The software is now capable of identifying whether signals are from cells derived from an individual carrying a disease-causing mutation or from a healthy individual.

Currently, genetic diseases are mainly diagnosed by DNA analysis, but in many cases the results do not reveal whether the DNA alteration is the true cause of the disease or whether it is just an innocent variation.

The combination of technologies could also be used in cases of unspecific but severe cardiac findings to identify the specific disease causing the symptoms.

Combining stem cell technology and artificial intelligence to diagnose genetic cardiac diseases

of the University of Tampere in Finland demonstrates that with the use of artificial intelligence and machine learning, it is possible not only to accurately sort sick cardiac cell cultures from healthy ones, but also to differentiate between genetic cardiac diseases.

The software is now capable of identifying whether signals are from cells derived from an individual carrying a disease-causing mutation or from a healthy individual.

Currently, genetic diseases are mainly diagnosed by DNA analysis, but in many cases the results do not reveal whether the DNA alteration is the true cause of the disease or whether it is just an innocent variation.

The combination of technologies could also be used in cases of unspecific but severe cardiac findings to identify the specific disease causing the symptoms.

Diagnostics of genetic cardiac diseases using stem cell-derived cardiomyocytes

A new study by Professors Martti Juhola and Katriina Aalto-Setälä of the University of Tampere in Finland demonstrates that with the use of artificial intelligence and machine learning, it is possible not only to accurately sort sick cardiac cell cultures from healthy ones, but also to differentiate between genetic cardiac diseases.

The software is now capable of identifying whether signals are from cells derived from an individual carrying a disease-causing mutation or from a healthy individual.

Currently, genetic diseases are mainly diagnosed by DNA analysis, but in many cases the results do not reveal whether the DNA alteration is the true cause of the disease or whether it is just an innocent variation.

The combination of technologies could also be used in cases of unspecific but severe cardiac findings to identify the specific disease causing the symptoms.

The ryanodine receptor modulates the spontaneous beating rate of cardiomyocytes during development

In adult myocardium, the heartbeat originates from the sequential activation of ionic currents in pacemaker cells of the sinoatrial node.

We conclude that a functional RyR2 is crucial to the progressive increase in heart rate during differentiation of ES cell-derived cardiomyocytes, consistent with a mechanism that couples Ca2+ release via RyR before an action potential with activation of an inward current that accelerates membrane depolarization.

A Look Inside a Beating Heart Cell

Now an NIH-funded team has captured video to show that a component of a heart muscle cell called microtubules—long thought to be very rigid—serve an unexpected role as molecular shock absorbers.

As described for the first time recently in the journal Science, the microtubules buckle under the force of each contraction of the muscle cell before springing back to their original length and form.

The findings have important implications for understanding not only the mechanics of a healthy beating heart, but how the abnormal stiffening of heart cells might play a role in various forms of cardiac disease.

To see what’s really happening inside such a cell requires incredibly detailed spatial resolution and the ability to capture events taking place at high speed.

The researchers went on to discover that the degree to which a particular microtubule buckles with a contraction depends on chemical modifications to its structure and specifically on the addition or subtraction of a chemical group known as tyrosine.

To find out whether removing too much tyrosine might be related to stiffened heart tissue in diseased hearts, the researchers compared heart tissue from healthy organ donors and those from transplant patients with varying degrees of heart disease.

Further study in patients with hypertrophic cardiomyopathy (thickened heart muscle) showed that the level of tyrosine associated with microtubules in the heart corresponded to the level of impairment in cardiac function.

Tags: biomechanics, cardiac disease, cardiology, cardiomyocyte, heart, heart contraction, heart disease, heart muscle cells, heartbeat, hypertrophic cardiomyopathy, microscopy, microtubule contractility, microtubules, tyrosination, tyrosine

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