New lethal genetic disease of the heart


Scientists at the Sahlgrenska Academy have discovered a previously unknown genetic disease caused by a genetic defect that leads to the fact that muscle cells lose their ability to store energy derived from sugar. The worst thing that can happen when a disease - it is a cardiac arrest.

The researchers examined the sisters who are sick of this previously unknown disease. Do all of them have expressed pathology of the heart muscle and other muscles of the body. The oldest of them (she was undergoing treatment for epilepsy) did not have the strength to play as long as her friends, but mostly it was considered a normal kid. At the age of 10 years, the child died suddenly while playing on the school playground. An autopsy revealed that the heart muscle has been increased, resulting in poor circulation and malfunction of the heart.

When similar symptoms have begun to appear in one of the two younger sisters, it was decided to take the analysis of samples of muscle tissue girls. It was found that the muscles do not have enough glycogen - a major source of energy for muscles.

Glycogen is composed of long-chain sugars, which are produced and stored in the cells. When a cell requires additional, energy chains of sugar break apart and form glucose. The heart muscle - the muscle that never rests, so it constantly needs energy. When she works hard, she has to "fish out" additional energy from glycogen.

This disease is quite rare. Genetic analysis revealed a hundred people a single carrier, and to the development of the disease must be received at least two.

However, the results of the study of this disease has a positive side. The mere fact that a person can live without glycogen is a very important discovery that could affect the study of other diseases. For example, type II diabetes, wherein (one theory) insufficient amount of glycogen in the muscles is less sensitive to insulin and the increased level of blood sugar.


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