#Autism’s Link to Mitochondrial DNA Mutations Grows | GEN

Originally posted 2016-11-08 14:26:56.


In recent years, ongoing research has continually shown that an increased number of autism spectrum disorder (ASD) cases are inextricably linked to greater numbers of harmful mutations within mitochondrial DNA (mtDNA) than other unaffected members of their immediate family—yet, the biological basis for this relationship has remained unclear. Now, investigators at Cornell University in Ithaca have performed an extensive genomic study to evaluate genetic variations in mtDNA among ASD patients, including the mixture of different mtDNA molecules within the same individual—a genetic scenario called heteroplasmy.

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Melatonin use in children with a neurodevelopmental illness – #autism #Tourette #ADHD #schizophrenia #Alzheimer

Originally posted 2016-11-08 14:31:01.

Melatonin has been studied in various populations including children, adults, and the elderly. It has also been studied among individuals with mood disorders, schizophrenia, Alzheimer’s dementia, and in children with neurodevelopmental problems. Melatonin has few side effects and is secreted in breast milk. It is not addictive and there is no rebound insomnia associated with it, so it is a good alternative for those suffering from insomnia.

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Gene therapy may be effective method for treating #Niemann-Pick disease, type C1

Originally posted 2016-11-08 14:22:19.

For the first time, National Institutes of Health (NIH) researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less severe NPC1 symptoms. The study, led by researchers at NIH’s National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, was published Oct. 26, 2016, in the journal Human Molecular Genetics.

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#Alzheimer’s Disease Caregivers To Get Telemedicine Training

Originally posted 2016-11-08 14:25:51.


Patients suffering from Alzheimer’s disease or dementia may resist care efforts from family members, such as taking a bath, taking medicine, routine mouth care, abstaining from alcohol or going to a medical appointment.

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Errores en la migración de ciertas neuronas podrían ser el origen de algunos trastornos neurocognitivos. #epilepsia #parálisiscerebral #autismo.

Originally posted 2016-11-07 16:36:33.

Durante los primeros meses de vida, una población masiva de nuevas neuronas parte de las paredes ventriculares cerebrales e invade toda la corteza prefrontal, un área relacionada con funciones cognitivas y de ejecución. Errores en esta migración podrían ser responsables de algunos trastornos neurocognitivos.

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Vinculan el neurotransmisor cerebral #GABA con el #autismo

Originally posted 2016-11-07 16:38:35.


Investigadores de la Universidad de Harvard han hallado que la conducta autista se asocia con una alteración de la vía de señalización usada por el ácido γ-aminobutírico (GABA), un importante neurotransmisor inhibidor. Es la primera vez, en humanos, que un neurotransmisor del cerebro se vincula con el autismo.

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Un posible tratamiento para la enfermedad de #Niemann-Pick tipo C

Originally posted 2016-11-07 16:36:29.


Un grupo de investigadores de la Universidad Médica y Dental de Tokio trabajan actualmente en la eficacia de un fármaco que parece tener una alta capacidad de reducir el colesterol en las células afectadas por la enfermedad de Niemann-Pick tipo C. Sin embargo, las altas concentraciones de estas moléculas llamadas HP-β-CD son muy tóxicas en ratones. Estos mismos investigadores han desarrollado una estrategia para administrar HP-β-CD a los lisosomas sin afectar otras estructuras celulares.

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Folinic acid improves communication, eases #autism symptoms in small study

Originally posted 2016-11-04 09:14:35.


In a small pilot study funded by Autism Speaks, treatment with folinic acid – a naturally occurring form of folate – improved communication and eased autism symptoms in language-impaired children who have autism. The gains were greatest in a subgroup of children who tested positive for an autoantibody that may partially block this vitamin from entering brain cells.

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Single Gene Mutation Increases Risk of Earlier Onset #Parkinson’s Disease

Originally posted 2016-11-04 09:07:53.

Origen: Single Gene Mutation Increases Risk of Earlier Onset Parkinson’s Disease

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#Alzheimer’s Disease Early Sign: Loneliness May Be Emotional Precursor To Disease, Study Finds

Originally posted 2016-11-04 09:08:41.

Doctors and patients often associate precursors of disease with physical symptoms; for example, a precursor of COPD may be a persistent cough, while precursors of breast cancer could be changes in breast shape or lingering pain. However, a new study challenges us to look outside the box when identifying these disease symptoms, and suggests that a precursor of Alzheimer’s may be as simple as increased loneliness.

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