Restoring protein homeostasis improves memory deficits in Down syndrome model

Down syndrome is the most common genetic cause of intellectual disability, and currently there is no effective treatment. Memory deficits are a hallmark of this condition and a study published today in the journal Science reports that the defects in a conserved stress pathway dubbed the ‘integrated stress response,’ or ISR, could explain the cognitive deficits in a mouse model […]

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Jameela Jamil Confirms Having A Rare Disorder Called ‘Ehlers-Danlos Syndrome’

Actress and presenter Jameela Jamil rose to fame after her appearance in the fantasy-comedy series The Good Place. More recently, she has been in the spotlight for her work as a body positivity activist than her acting endeavors. She has always believed in being transparent about her life experiences and continuing that she even shared having a tissue disorder which […]

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How manganese produces a parkinsonian syndrome

Using X-ray fluorescence at synchrotrons DESY and ESRF, researchers in the Centre d’Etudes Nucléaires de Bordeaux Gradignan (CNRS/Université de Bordeaux) have demonstrated the consequences of a mutation responsible for a hereditary parkinsonian syndrome: accumulated manganese in the cells appears to disturb protein transport. This work, carried out with colleagues at the University of Texas at Austin (USA), was published in […]

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Understanding Down syndrome opens door to Alzheimer’s prevention trials

Clinical trials for preventing Alzheimer’s disease in people with Down syndrome may soon be possible thanks to new research from King’s College London. The researchers found changes in memory and attention are the earliest signs of Alzheimer’s in Down syndrome, and these changes start in the early 40s. People with Down syndrome have an extremely high risk of developing Alzheimer’s […]

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Complication of broken heart syndrome associated with both short- and long-term risk of death

When patients with broken heart syndrome survive a life-threatening complication that renders the heart suddenly unable to pump enough blood, they remain at greater risk of death for years afterwards, according to research to be presented in Chicago at the American Heart Association’s Scientific Sessions 2018. The study will also be simultaneously published in the American Heart Association’s journal Circulation. […]

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Natural sugar defends against metabolic syndrome, in mice

New research, in mice, indicates that a natural sugar called trehalose blocks glucose from the liver and activates a gene that boosts insulin sensitivity, reducing the chance of developing diabetes. Activating the gene also triggers an increase in calories burned, reduces fat accumulation and weight gain, and lessens measures of fats and cholesterol in the blood. The findings, from researchers […]

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Mouse study identifies new target for human accelerated aging syndrome

Scientists from the University of Cambridge have identified a potential therapeutic target in the devastating genetic disease Hutchinson-Gilford Progeria Syndrome (HGPS), which is characterised by premature ageing. In a paper published today in Nature Communications, scientists provide preclinical data showing that chemical inhibition or genetic deregulation of the enzyme N-acetyltransferase 10 (NAT10) leads to significant health and lifespan gains in […]

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Metabolic syndrome common with chronic hep B infection

(HealthDay)—Metabolic syndrome (MetS) is prevalent among patients with chronic hepatitis B (HBV) infection, according to a study published online March 29 in Diabetes Care. Mandana Khalili, M.D., from the University of California, San Francisco, and colleagues assessed prevalence of MetS and its influence on alanine aminotransferase (ALT) levels and fibrosis among a multiethnic North American cohort with chronic HBV infection […]

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Oral sirolimus alters the course of DIPNECH syndrome in three patients

Sirolimus, which is used to prevent rejection after kidney transplants, has been used to successfully treat three cases of a rare disorder called diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, or DIPNECH syndrome. The syndrome is so rare that there are no clinical recommendations to guide care and, therefore, no proven therapies. The brief case report is published in Annals of […]

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