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Tag: mitochondria

January 2012
News

Sequencing identifies source of mitochondrial disorders

by  /  30 January 2012

Researchers have identified the genetic root of severe mitochondrial disorders in infants whose cases couldn’t be solved by standard genetic testing, according to research published last week in Science Translational Medicine.

1 Comment
Opinion

Research evolution

by  /  3 January 2012

A new study examining trends in autism research over the past 40 years found that the largest areas of growth have been in immune function, oxidative stress, toxin exposure, genetics and neuroimaging, while research on theory of mind and neuropathology has slowed.

6 Comments
November 2011
News

Mouse models point to early troubles in tuberous sclerosis

by  /  28 November 2011

The brain abnormalities characteristic of tuberous sclerosis may begin early in development and involve malfunctioning of neuronal precursors, according to studies of two different mouse models of the disorder published in October.

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August 2011
News

Clinical research: Metabolic disorders rare in autism

by  /  23 August 2011

Screening for metabolic disorders in children with autism is not cost-effective, according to a study published 7 July in PLoS One. The researchers argue instead for careful individual clinical analysis.

2 Comments
May 2011
News

Genetics: Multiple hits affect key pathways in autism

by  /  24 May 2011

Individuals with autism have multiple mutations in a pathway that functions in the mitochondria, the energy center of the cell, according to a study published 27 April in the European Journal of Human Genetics. They also have higher-than-average numbers of variants in pathways involved in metabolism, gene expression and the regulation of cell division.

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Opinion / Viewpoint

Promises and limitations of mouse models of autism

by  /  10 May 2011

Good mouse models of autism, and accurate tests to assay their phenotypes, are key to both narrowing down a cause and developing effective treatments, argues expert Jacqueline Crawley.

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April 2011
News

Genetics: Deep sequencing reveals rare mutations

by  /  5 April 2011

Rare mutations with strong effects play a key role in autism and schizophrenia, according to a study published in February in PLoS Genetics. The study identifies rare harmful mutations in three candidate genes that are more common in individuals with one of the disorders than in controls.

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March 2011
News

Genetics: Parkinson’s disease gene linked to autism

by  /  30 March 2011

Two children with Asperger syndrome have disruptions in the PARK2 gene — one child has a duplication in the gene whereas the other has a deletion — according to a study published in February in the American Journal of Medical Genetics.

10 Comments
News

Molecular mechanisms: Autism gene linked to mitochondria

by  /  22 March 2011

Disrupted-in-schizophrenia 1, or DISC1— a protein associated with both autism and schizophrenia — is involved in the transport of mitochondria, the power-houses of the cell, to their correct locations in neurons, according to a study published in February in Molecular Psychiatry.

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News

Mitochondrial function disrupted in children with autism

by  /  17 March 2011

The first study to look at mitochondria — the powerhouses of the cell — in postmortem brain tissue taken from children with autism has found significant abnormalities in their function in some regions of the brain.

4 Comments