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Cause of genetic disorder found in “dark matter” of DNA

By Guest PostNovember 18, 2013Healthblood, cause, cell, dark matter, disease, DNA, genetic disorder, glucose, junk dna, mike weedon, pancreatic agenesis, pancreatic beta cells, professor andrew hattersley, ptf1a regulatory region, regulating level, sugar, type 1 diabetes, university of exeter

For the first time, scientists have used new technology which analyses the whole genome to find the cause of a genetic disease in what was previously referred to as “junk DNA”.

Pancreatic agenesis results in babies being born without a pancreas, leaving them with a lifetime of diabetes and problems digesting food.

In a breakthrough for genetic research, teams led by the University of Exeter Medical School and Imperial College London found that the condition is most commonly caused by mutations in a newly identified gene regulatory element in a remote part of the genome, which can now be explored thanks to advances in genetic sequencing. (more…)

Mutations in Genes that Modify DNA Packaging Result in form of Muscular Dystrophy

By Guest PostNovember 22, 2012Sciencebiopsies, chromatin structure, chromosome 4, culture, daniel g miller, devastating disease, dna sequence, facioscapulohumeral muscular dystrophy, family history, fshd, genetic deletions, genetic disorder, genetic material, genome, leiden university, medical geneticists, michael bamshad, muscle cell, muscle toxic dux4, mutation, protein, rabi tawil, rochester, silvere, smchd1 gene, stephen tapscott, symptom, the netherlands, university, van der maarel, Washington

A recent finding by medical geneticists sheds new light on how facioscapulohumeral muscular dystrophy develops and how it might be treated. More commonly known as FSHD, the devastating disease affects both men and women.

FSHD is usually an inherited genetic disorder, yet sometimes appears spontaneously via new mutations in individuals with no family history of the condition.

“People with the condition experience progressive muscle weakness and about 1 in 5 require wheelchair assistance by age 40,” said Dr. Daniel G. Miller, University of Washington associate professor of pediatrics in the Division of Genetic Medicine. Miller and his worldwide collaborators study the molecular events leading to symptoms of FSHD in the hopes of designing therapies to prevent the emergence of symptoms or reduce their severity. (more…)

Berkeley Lab Scientists Help Develop Promising Therapy for Huntington’s Disease

By Guest PostNovember 11, 2012Healthalzheimers, antidepressants, bacterial membrane, berkeley lab, cells, cerebral cortex, chemist, coenzyme q, cognitive decline, compound, cynthia mcmurray, DNA, genetic disorder, genetic mutation, huntingtons disease, loss, mice, mitochondria, mitochondrial function, molecules, motor coordination, motor skills, muscle coordination, neurodegenerative diseases, neuron, organelle, oxidative damage, parkinson's, peter wipf, pittsburgh, power plant, reactive oxygen species, striatum, suppress, survival, symptoms, synthetic antioxidant, university, untreated neuronal cultures, vitamin e, xjb 5 131, xjb treated mice, zhiyin xun

Initial results in mice could lead to new way to fight neurodegenerative diseases

There’s new hope in the fight against Huntington’s disease. A group of researchers that includes scientists from the U.S. Department of Energy’s Lawrence Berkeley National Laboratory (Berkeley Lab) have designed a compound that suppresses symptoms of the devastating disease in mice.

The compound is a synthetic antioxidant that targets mitochondria, an organelle within cells that serves as a cell’s power plant. Oxidative damage to mitochondria is implicated in many neurodegenerative diseases including Alzheimer’s, Parkinson’s, and Huntington’s. (more…)

Tag Archives: genetic disorder

Cause of genetic disorder found in “dark matter” of DNA

Mutations in Genes that Modify DNA Packaging Result in form of Muscular Dystrophy

Berkeley Lab Scientists Help Develop Promising Therapy for Huntington’s Disease