Encephalopathy News and Research

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Advanced Sequencing Uncovers Cause of Rare Mitochondrial Encephalopathy

Mitochondrial diseases are among the most prevalent hereditary metabolic disorders, known to occur in one out every 5000 births.

19 Nov 2024

5-ALA Opens New Avenues for Treating Mitochondrial Disorders

At the Tokyo Metropolitan University, researchers have shown that 5-aminolevulinic acid (5-ALA) aids bypass deficiencies in Complex I (CI), the first in a series of protein complexes that transport electrons and assist in powering the mitochondria.

17 Jul 2023

Specific genetic variant resulting in the early onset of epilepsy identified

Children’s Hospital of Philadelphia (CHOP) researchers have identified a particular genetic variant in SCN1A, the most common genetic epilepsy, that contributes to an earlier start of epilepsy with clinical features different from other epilepsies.

1 Dec 2022

Researchers analyze single-cell DNA sequencing for having a significant role in Alzheimer’s disease

The loss of functional neurons in the brain is a characteristic of Alzheimer’s disease. What, on the other hand, is the source of this loss?

21 Apr 2022

Novel molecular pathway shared by ALS and frontotemporal dementia identified

Scientists from two independent research teams have discovered how the mislocalization of a protein, known as TDP-43, alters the genetic instructions for UNC13A, providing a possible therapeutic target that could also have implications in treating amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other forms of dementia.

1 Mar 2022

Study unravels new aspects of prions causing untreatable neurodegenerative conditions

A new study achieved the highest-ever resolution imaging of an infectious prion, offering atomic-level data of how these abnormal proteins assemble.

25 Aug 2021

World Food Safety Day 2021: An Interview with the World Health Organization (WHO)

AZoLifeSciences interviews Francesco Branca, director of the Department of Nutrition and Food Safety at the World Health Organization, for World Food Safety Day 2021.

From World Health Organization (WHO) 14 Jun 2021

Study shows how tau aggregates promote Alzheimer’s disease

If looked deep into the brain of a patient with Alzheimer’s disease or those suffering from the most types of dementia or the concussion-associated syndrome, called chronic traumatic encephalopathy (CTE), there would be hairball-like tangles of a protein known as tau—a common suspected culprit.

20 Apr 2021

Catechin-type flavonoid compounds in tea relax blood vessels by activating ion channel proteins

A new study from the University of California, Irvine shows that compounds in both green and black tea relax blood vessels by activating ion channel proteins in the blood vessel wall.

9 Mar 2021

Study provides insight into the structure of prion proteins responsible for diseases

Prion diseases are a group of rapidly progressive, fatal and infectious neurodegenerative disorders affecting both humans and animals: Bovine Spongiform Encephalopathy (BSE) or 'mad cow' disease is one of the most famous since in 1996 scientists found that the agent responsible for the disease in cows, is the same agent responsible for the so-called variant Creutzfeldt-Jakob Disease (vCJD), a disease affecting humans.

22 Feb 2021

Study: CAR T cell therapy is a safe, effective therapy for high-risk large B-cell lymphoma

A study led by researchers at The University of Texas MD Anderson Cancer Center found that axi-cel, an autologous anti-CD19 chimeric antigen receptor (CAR) T cell therapy, is a safe and effective first-line therapy for patients with high-risk large B-cell lymphoma (LBCL), a group with an urgent need for new and effective treatments.

8 Dec 2020

Virginia Tech scientists reveal molecular cause underlying rare genetic disorder

Virginia Tech scientists have revealed how a nonfunctioning version of an ordinary gene impairs brain structure and function. The findings help explain a genetic form of microcephaly -- a condition where babies' heads are small and grow more slowly than their peers.

28 Jul 2020

Study shows promise for treating developmental and epileptic brain disease

Studies show that a pair of mutations detected in people with developmental and epileptic brain disease can be traced back to the same ion channel.

19 Jun 2020

Excessive degradation of mitochondria causes severe disease in children

Researchers at Karolinska Institutet in Sweden have discovered that excessive degradation of the power plants of our cells plays an important role in the onset of mitochondrial disease in children.

12 Jun 2020