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Sudden child death caused by a defective gene


New cause of sudden infant death identified

Sudden infant death often appears to be caused by a defective gene. This gene prevents affected babies from digesting milk. The new finding could lead to an improved understanding of sudden child death in the future and perhaps also to effective forms of prevention.

Stanford University's study found that sudden infant death can be related to a gene that makes it impossible for the child to digest milk. The results of the study were published in the English language journal "Nature Communications".

Genetic abnormality causes sudden death of babies

The current study found for the first time a plausible causal relationship between a genetic abnormality and some cases of sudden child death. This opens up the possibility of one day examining babies in the womb for this deficiency and possibly even treating it.

Can't affected babies break down fat?

A mutation of the HADHA gene means that babies are unable to metabolize lipids. These molecules include fats, cholesterol and fatty acids. The deficit can lead to premature sudden death of the baby. Some of the babies who die of sudden infant death each year may have suffered fatal heart attacks because they were unable to lose fat. If babies have a mutation and die prematurely, an autopsy may not necessarily reveal why the child actually died. It could be because the child's heart simply stopped beating, according to the researchers.

Other causes of sudden child death

According to the NHS, other causes of sudden child death can be low birth weight, difficulty breathing or environmental pollution such as tobacco smoke, although the relationships are not clearly proven. The common sleeping of parents and child in one bed is also a possible cause of sudden child death. According to the charity The Lullaby Trust, falling asleep together with their baby on a sofa or armchair significantly increases the risk of sudden child death.

Hope for healing in the near future?

The team examined stem cells in a laboratory to see how they behave in the presence of various genetic abnormalities. In doing so, they identified complications that occur when enzymes fail to complete a process known as fatty acid oxidation. Referring to the HADHA anomaly, it can be said that there is no cure for sudden infant death. But there is at least hope now, because by identifying a new aspect of the disease, affected children may be able to be helped in the future, according to the researchers. (as)

Author and source information

This text corresponds to the specifications of the medical literature, medical guidelines and current studies and has been checked by medical doctors.

Swell:

  • Jason W. Miklas, Elisa Clark, Shiri Levy, Damien Detraux, Andrea Leonard et al .: TFPa / HADHA is required for fatty acid beta-oxidation and cardiolipin re-modeling in human cardiomyocytes, in Nature Communications (query: 13.10.2019) , Nature Communications



Video: Genetic Testing for Inherited Cardiovascular Disease and Sudden Death Syndrome (January 2022).