Scientists offer a new vision of rare genetic condition ;
All children are screened for a number of conditions at birth, such as phenylketonuria (PKU), a genetic disorder passed by the mutated gene from both parents to their offspring . Phenylketonuria is rare, affecting only one in 10,000 children in the U.S.; therefore, rarely he studied. Currently the main way of managing the disease is through a restricted diet. Now researchers at the University of Missouri, are using magnetic resonance imaging (MRI) to learn more about the effects of this disease in the brain and to help scientists in the development of therapeutic drugs that help treat and control the disease .
PKU is a condition in which the body can not metabolize an amino acid called phenylalanine to tyrosine, a precursor of dopamine and other important neurotransmitters. If left untreated, phenylalanine accumulates and can cause serious health problems such muscle control problems, seizures, behavioral problems and intellectual disabilities. Once identified, patients with PKU are placed in a restricted diet limiting the amount of phenylalanine consuming lessen the impact of the disease. Phenylalanine is found in many foods, especially those high in protein such as eggs, milk, nuts and meats.
“Most studies in relation PKU-treated promptly examine those observed in effects white matter brain,” said Shawn Christ, associate professor of psychological sciences at the University of Missouri of Arts and Sciences and director of the Center UM brain imaging. “However, only a handful of studies investigating the effects of PKU gray matter have been carried out. We decided to add to the body of knowledge on this aspect little studied in people affected by PKU. ”
The gray matter is located on the surface of the cerebral cortex and also includes deep brain structures such as the thalamus and basal ganglia. The white matter is below the gray matter cerebral cortex and comprises nerve pathways long that are responsible for the transfer of information between regions of gray matter, where the information processing occurs.
previous attempts to examine the potential effects of PKU in gray matter have been very few and have been limited by technology at the time. In its most recent study, Christ and his colleagues combined the latest advances in imaging with magnetic resonance techniques more sensitive analysis including detailed manual segmentation of the hand of the MRI data. The team of Christ spent nearly two years mapping the gray matter of more than 40 individuals with and without PKU and found evidence of abnormalities of gray matter in individuals with PKU it is time to be more severe in the posterior regions of the brain .
“To minimize these effects, it is important for someone with PKU to keep dietary treatment throughout his life, but especially during early childhood to help prevent irreversible brain damage,” said Christ. “However, even if it remains low in phenylalanine, these people are still at risk of difficulties due to lower than normal levels of dopamine associated with the inability to produce tyrosine. We believe that our research has the potential to contribute to better understand the mechanisms underlying abnormalities in the brain and behavior associated with the disorder; therefore, they can inform the development of new and exciting treatments for PKU “
Later this month, Christ and other delegates of the National Alliance PKU will meet with leaders of the National Institute of Child Health and Human Development, an organization of the National Institutes of Health, Eunice Kennedy Shriver to highlight the need for additional funds to support research on PKU and its impact on health.
The study “Morphometic Integrity Analysis gray matter in people with phenylketonuria treated-Early” recently was published in Molecular Genetics and Metabolism and was funded by the National Alliance PKU.
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Posted in: Genetics