Sentences with phrase «leigh syndrome»

Outcome: Alaskan Husky Encephalopathy (AHE) has been previously proposed as a mitochondrial encephalopathy based on neuropathological similarities with human Leigh Syndrome (LS).

The approach might one day point to new therapies for people with Leigh syndrome and other mitochondrial disorders.

One such disorder is Leigh syndrome, a rare disease that often appears in the first few years of life.

Following a Forward Genetics approach, Fleming researchers identified a novel neurological mouse model caused by a functional mutation in the Slc25a46 gene, a new pathogenic target in a wide spectrum of human neurological diseases, including optic atrophy, Charcot - Marie - Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia.

Gerards et al. (2013) Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early - childhood fatal Leigh syndrome.

That same gene is mutated in some people with Leigh syndrome.

Published in Reproductive Biomedicine Online, scientists have described the technique they used to create the first live birth after oocyte spindle transfer to prevent transmission of the mitochondrial disease, Leigh syndrome.

Severe defects in mitochondrial proteins are associated with fatal childhood diseases, including Leigh Syndrome.

As a result of this finding, rapamycin (which inhibits the mTOR nutrient - signaling path - way) was tested in a mouse model of Leigh Syndrome.

Outline title: «First live birth using human oocytes reconstituted by spindle nuclear transfer for mitochondrial DNA mutation causing Leigh syndrome» by J. Zhang et al. published in outline form by the American Society of Reproductive Medicine's Fertility and Sterility journal website.

About 55 per cent of each cell's mitochondria have to carry harmful mutations for children to develop Leigh syndrome.

That is far below the proportion that causes Leigh syndrome, and the mother has seen no signs of the problems that her other children had.

The parents of the boy born this year sought help after having two children die from Leigh syndrome, caused by mutations in mitochondria.

However, about one in 200 women carry defective mitochondrial DNA, and their children can develop serious or fatal diseases such as cyclic vomiting syndrome, which results in bouts of nausea and fatigue, and Leigh syndrome, in which babies gradually lose muscle strength and control.

They noted that a U.S. - led team in Mexico may have prevented Leigh syndrome in a child by replacing the mutation - bearing mitochondria of oocytes with donated mutation - free oocytes.

Mitochondrial diseases include Leigh syndrome, a progressive and fatal disorder characterized by lesions on the brain that may lead to heart, kidney, vision and breathing complications, and Alpers Disease, a neurologic illness that causes seizures, dementia, spasticity, blindness, liver dysfunction and cerebral degeneration.

Xinde Zheng, a research associate in the Hunter lab, was already studying the properties of cells affected by Leigh syndrome, whose inherited neurodegeneration is caused by a mutation in mitochondrial DNA that reduces ATP production.

More work is needed to determine whether the findings on rapamycin hold true in animal models of Leigh syndrome and other neurodegenerative diseases, and to ascertain how exactly rapamycin is altering the metabolism of the cells.

Zheng, together with Leah Boyer, then a researcher in Gage's lab and now director of Salk's Stem Cell Core, generated diseased neurons by taking skin cells from patients with Leigh syndrome, reprogramming them into stem cells in culture and then coaxing them to develop into brain cells in a dish.

«Our study shows that protein production in neurons is one of the major utilizers of energy and that neurons of Leigh syndrome degenerate because they can't sustain a high enough level of energy,» says Tony Hunter, the Renato Dulbecco Chair and American Cancer Society Professor in Salk's Molecular and Cell Biology Laboratory, who led the research.

In their study, the team found that Leigh Syndrome neurons decayed in the dish and showed clear signs of energy depletion.

The discovery began with an 8 - year - old girl who had a mitochondrial disease known as Leigh syndrome.

But the new Salk research, published in the journal eLife, suggests that rapamycin could also target the neural damage associated with Leigh syndrome, a rare genetic disease, and potentially other forms of neurodegeneration as well.

They then moved to mice with a version of a human mitochondrial disease called Leigh syndrome.

The mother, in this case, is healthy, but the Leigh syndrome she carries caused the death of her first two children.

Not exact matches

This phenomenon we might call the Vera Drake syndrome, named after the relentlessly poignant and almost unwatchable Mike Leigh film that, in a case of mass critical psychosis, got good reviews in 2004 from almost everybody, including me.