Unraveling mitochondria’s mysterious link to autism
In the past two weeks, autism researchers and advocacy groups have been agog with news that autism could be linked to an extremely rare group of metabolic diseases.
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
In the past two weeks, autism researchers and advocacy groups have been agog with news that autism could be linked to an extremely rare group of metabolic diseases.
Autism is caused by poor parenting, particularly by ‘frigid’ mothers who reject their children. Such a statement would seem bizarre today. But 30 years ago parents, especially mothers, were blamed for their childrenʼs autism. But then in 1977, one study, published in the Journal of Child Psychology and Psychiatry, single-handedly turned the field around to recognize the importance of genetics.
Following a series of papers in the past two years, what seems irrefutable is that copy number variations ― in which a particular stretch of DNA is either deleted or duplicated ― are important in autism.
Are older fathers more likely to have children with autism? A series of epidemiological studies is giving credence to the idea, suggesting that, with age, sperm may accumulate damage that increases risk in the next generation.
Two research groups have achieved an elusive goal: producing mouse models that show distinct social and behavioral abnormalities reminiscent of autism.
People with autism struggle to see their own role in social situations. That’s the conclusion from the first study to scan individualsʼ brains while they interact with another person – a technique that could lead to a diagnostic tool.
Imagine being confined for at least half an hour to a dark, claustrophobic tunnel, in a machine so obnoxiously loud that it sounds like you’re in an oil drum with a jackhammer pounding on the outside. Thatʼs whatʼs involved in magnetic resonance imaging (MRI): an experience enough to make even the bravest among us flinch.
Itʼs not often that movies, books and plays represent science accurately, or with a true and empathetic understanding of its complexity.
In a paper published today in The New England Journal of Medicine, researchers have identified a segment containing 25 genes on chromosome 16 that was deleted or duplicated in roughly one percent of children with autism.
Huda Zoghbi and her colleagues painstakingly sequenced the candidate genes for Rett syndrome, culminating in the 1999 Nature Genetics report that pinpointed six de novo mutations in the MeCP2 gene as the cause of the disorder.