Research by Topic: Tuberous Sclerosis

AGENDA’s First Initiative is a Unified Registry of Family Data

Published October 17, 2018

Today, ASF announced that it will be leading the newly-launched Alliance for Genetic Etiologies of Neurodevelopmental Disorders and Autism (AGENDA). This alliance is a partnership of research and advocacy organizations focused on improving outcomes of individuals with all forms of autism by fostering a genetics-first approach to autism science. AGENDA will also work to strengthen […]

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Podcast: Reusing and recycling autism data from brain tissue

Published June 25, 2018

On this week’s podcast, data obtained from brains of people with autism is reused and re-analyzed so that a new role of mitochondria and their relationship to the activity of synapse genes could be discovered. In addition, cellular stress is seen in the brains of people with autism. What comes first? Mitochondrial dysfunction and cellular […]

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Autisms Unexpected Link to Cancer Gene

Published August 11, 2013 in The New York Times

Researchers have recently discovered that two seemingly unrelated conditions, autism and cancer, share an unexpected connection. Some people with autism have specific mutated cancer or tumor genes that scientists believe caused their autism. While this does not apply to all people with autism, just the ones with the mutated gene, it is a very illuminating discovery in the field.

http://www.nytimes.com/2013/08/13/health/autisms-unexpected-link-to-cancer-gene.html?pagewanted=all

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Researchers Swing Toward Monkey Models of Autism

Published October 18, 2012 in SFARI

Scientists reveal efforts to create transgenic monkey models of autism. Compared to mice and rats, these animals are more genetically similar to humans, and display more complex social and communicative behaviors.

http://sfari.org/news-and-opinion/conference-news/2012/society-for-neuroscience-2012/researchers-swing-toward-monkey-models-of-autism

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Autism May Involve Disordered White Matter in the Brain

Published December 6, 2011 in Science Daily

While it is still unclear what’s different in the brains of people with autism spectrum disorders, more and more evidence from genetic and cell studies points to abnormalities in how neurons connect to each other.

Autism May Involve Disordered White Matter in the Brain

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Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

Published November 25, 2011 in Medical News Today

In most cases, autism is caused by a combination of genetic factors, but some cases, such as Fragile X syndrome, can be traced to a variation in a single gene that causes overproduction of proteins in brain synapses. Now a new study led by the same MIT neuroscientist who made that discovery, finds that tuberous sclerosis is caused by a malfunction at the opposite end of the spectrum: underproduction of the synaptic proteins.

Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

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Tuberous Sclerosis Complex Proteins Control Axon Formation

Published September 15, 2008 in Genes Development, Choi, DiNardo, et al

Axon formation is fundamental for brain development and function. TSC1 and TSC2 are two genes, mutations in which cause tuberous sclerosis complex (TSC), a disease characterized by tumor predisposition and neurological abnormalities including epilepsy, mental retardation, and autism. Here we show that Tsc1 and Tsc2 have critical functions in mammalian axon formation and growth. Overexpression […]

http://www.ncbi.nlm.nih.gov/pubmed/18794346

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Reversal of Learning Deficits in a Ts2+/- Mouse Model of Tuberous Sclerosis

Published August 31, 2008 in Nature Medicine, Ehninger, Han, et al

Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is frequently associated with mental retardation, autism and epilepsy. Even individuals with tuberous sclerosis and a normal intelligence quotient (approximately 50%) are commonly affected with specific neuropsychological problems, including long-term and working memory deficits. Here we […]

http://www.ncbi.nlm.nih.gov/pubmed/18568033

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