Gene mutations lead to autism and mental retardation

Newly discovered gene variants lead to autism and mental retardation — Inner structure of nerve synapses defective in patients; human geneticists from Heidelberg publish in Nature Genetics – Researchers working with Professor Gudrun Rappold, Director of the Department of Molecular Human Genetics at Heidelberg University Hospital, have discovered previously unknown mutations in autistic and mentally impaired patients in what is known as the SHANK2 gene, a gene that is partially responsible for linking nerve cells. However, a single gene mutation is not always enough to trigger the illness.

Autistic people don’t want hugs

New clue why autistic people don’t want hugs — Scientists find sensory cortex develops late in fragile X syndrome defect – Why do people with fragile X syndrome, a genetic defect that is the best-known cause of autism and inherited mental retardation, recoil from hugs and physical touch ? even from their parents?

Gene defect can cause sever mental retardation as Angelman syndrome

Preclinical Work Shows How One Gene Causes Severe Mental Retardation. – Researchers at Duke University Medical Center and the University of North Carolina have discovered in mice how a single disrupted gene can cause a form of severe mental retardation known as Angelman syndrome.

Taking folic acid before pregnancy reduces preterm birth risk

Taking folic acid for a year before pregnancy may reduce risk of preterm birth. Findings reinforce March of Dimes message: Start taking a vitamin with folic acid before pregnancy. – Women who take folic acid supplements for at least one year before they become pregnant may cut their risk of having a premature baby by half, according to research published this week in the online journal, PLoS Medicine.

Newborn screening for life threatening disorders expanded in US

US expand newborn screening for life-threatening disorders. New March of Dimes report finds state-by-state gaps nearly eliminated. – Regardless of where they are born in the United States, nearly all newborns now receive mandated screening for many life-threatening disorders, a remarkable public health advance of the last four years, according to a new report issued today by the March of Dimes.

Less folate in diet cause abnormal sperm

Healthy men who report lower levels of the nutrient folate in their diets have higher rates of chromosomal abnormalities in their sperm. – Healthy men who report lower levels of the nutrient folate in their diets have higher rates of chromosomal abnormalities in their sperm, according to a new study by researchers at the University of California, Berkeley, and the Lawrence Berkeley National Laboratory.

Genetic mutation increases risk of preterm birth

Mutations in immune system gene linked to placental injury common in preterm babies – Genetic mutations in the Toll-like receptor 4 (TLR4) gene appear to have significant association with inflammatory injury to the placenta and developing baby, researchers from the University of Pittsburgh’s department of obstetrics, gynecology and reproductive sciences report at the 28th annual meeting of the Society for Maternal-Fetal Medicine. Scientific sessions continue through Saturday, Feb. 2, at the Dallas Hyatt Regency at Reunion.

Changes in X chromosome may lead to mental retardation

Various mutations of a small part of the X chromosome may lead to mental retardation, intellectual disability. – University of Adelaide geneticist Dr Jozef Gecz and a team of Belgium and UK scientists have achieved a major breakthrough in discovering the causes of intellectual disability. Dr Gecz, a senior researcher who is based at the Women’s and Children’s Hospital in Adelaide, has collaborated with an international research team to reveal that various mutations of a small part of the X chromosome lead to mental retardation.

Fragile X syndrome affecting brain cells

Dr. Kimberly Huber investigated how Fragile X syndrome affects communication between cells in the hippocampus, a region of the brain that is involved in learning and memory. Fragile X syndrome is the most common cause of inherited mental retardation and the most common genetic cause of autism. – Researchers at UT Southwestern Medical Center are uncovering how brain cells are affected in Fragile X syndrome, the most common cause of inherited mental retardation and the most common genetic cause of autism.

Potential drugs for mental retardation and autism treatment

US researchers say they have successfully corrected key symptoms of a type of autism and mental retardation in mice, a development which could offer sufferers a potential treatment. – Researchers at MIT’s Picower Institute for Learning and Memory have corrected key symptoms of mental retardation and autism in mice. The work, which will be reported in the Dec. 20 issue of Neuron, indicates that a certain class of drugs could have the same effect in humans. These drugs are not yet approved by the FDA, but will soon be entering into clinical trials.

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