An Israeli – American research collaboration, published in the prestigious journal “Neuron”, shows new discoveries of genetic mutations responsible for severe neurological disorders, that have remained unclear until now.
The research was conducted by leading genetics researchers from Sheba Medical Center at Tel Hashomer (Israel), and Duke University in North Carolina (USA).
The aim of the research was finding new genetic mutations that cause neurological diseases. Researchers set out to find the genetic cause of severe neurological diseases in infancy and early childhood. The project sought to locate the genetic cause of around a hundred genetic diseases that affect the Israeli population. The genetic cause for these conditions had remained unknown despite great research efforts.
Genetic defect that causes microcephaly
Among the innovations in this research is the discovery of changes in a gene that cause microcephaly (a small brain), a rare disorder that affects Jewish children of Iranian descent. These children were medically observed for several years at the Edmond and Lily Safra pediatric neurology institute and the neurology unit at Wolfson Medical Center in Holon.
Symptoms of this disorder include a smaller head size at birth, a slow development of the head, seizures, and severe intellectual disabilities. The research found that the defected gene causing the genetic disorder is responsible for coding the protein enzyme ASNS that creates the amino acid asparagine, that is one of the foundations of protein. The genetic mutation causes a low concentration of this substance in the brain.
This shortage leads to impairments in brain development in the fetus and after birth. This is a metabolic disease, but it cannot be detected in genetic testing since the metabolic value does not greatly exceed the normal level. This stresses the importance of this new discovery, that enables a specific genetic test for this disorder.
Genetic mutation in children of Jewish Bukharan descent
Another discovery of this research helped understand a genetic disorder prevalent in children of Jewish Bukharan descent (central Asian descent). The symptoms to this genetic disorder include intellectual disability, muscle defects and walking difficulties. In some cases, symptoms also include epilepsy, short stature and respiratory impairments that require assisted ventilation.
The disease is caused by a mutation to the gene TECPR2. This gene plays a part in breaking down waste from cells, including brain cells. Despite many years of researching this process, researchers reported no breakthrough in finding a possible treatment. There are also no similar diseases known to research.
The prevalence of this mutation among Bukharan Jews is around 1:40. Early detection of this gene is highly important; it can allow identification of carriers and help prevent the disease being passed down. In addition, this discovery can serve as a basis for broadening researchers’ understanding of this genetic defect.
Innovations in treatment and diagnosis of genetic disorders
The discovery of the genes causing these genetic disorders is the result of a cooperation of researchers: clinicians that correctly identified the disease among patients, and geneticists using new techniques for identifying genes and researching the mechanism behind the affected proteins caused by the genetic defect.
Thanks to these co-operations and innovations, severe genetic disorders can be prevented, and treatment methods can be developed.
