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Another Muscular Dystrophy Mystery Solved; MU Scientists Inch Closer to a Therapy for Patients

By Guest PostDecember 9, 2012Healthbony, cell degeneration, chain reaction, damage, death, devastating disease, dmd, dongsheng duan, duchenne muscular dystrophy, dystrophin, fatty tissue, fibrous, function, gene mutation, humans, missouri, molecular compound, muscle cells, muscle tissue, muscular dystrophy, nnos, protein, united states, university, utrophin, yi lai

COLUMBIA, Mo. — Approximately 250,000 people in the United States suffer from muscular dystrophy, which occurs when damaged muscle tissue is replaced with fibrous, bony or fatty tissue and loses function. Three years ago, University of Missouri scientists found a molecular compound that is vital to curing the disease, but they didn’t know how to make the compound bind to the muscle cells. In a new study, published in the Proceedings of the National Academies of Science, MU School of Medicine scientists Yi Lai and Dongsheng Duan have discovered the missing pieces to this puzzle that could ultimately lead to a therapy and, potentially, a longer lifespan for patients suffering from the disease.

Duchenne muscular dystrophy (DMD), predominantly affecting males, is the most common type of muscular dystrophy. Patients with Duchenne muscular dystrophy have a gene mutation that disrupts the production of dystrophin, a protein essential for muscle cell survival and function. Absence of dystrophin starts a chain reaction that eventually leads to muscle cell degeneration and death. While dystrophin is vital for muscle development, the protein also needs several “helpers” to maintain the muscle tissue. One of these “helper” molecular compounds is nNOS, which produces nitric oxide that can keep muscle cells healthy after exercise. (more…)

Gene Mutations Cause Massive Brain Asymmetry

By Guest PostJune 30, 2012Health, Scienceanti seizure medication, brain asymmetry, breast, dna sequence, gary w mathern, gene mutation, genetic change, genome, hemimegalencephaly, infancy, jeong ho lee, joseph g gleeson, korea advanced institute, nature genetics, pancreatic cancer, protein coding exons, somatic mutation

Discovery could help lead to prevention of radical surgery for rare childhood disease

Hemimegalencephaly is a rare but dramatic condition of infancy in which half the brain is malformed and much larger than the other half. Its cause is unknown, but the current treatment is radical: the surgical disconnection and removal of the diseased half of the brain.

In a paper published in the June 24 online issue of the journal Nature Genetics, a team of doctors and scientists says mutations in a trio of genes that help regulate cell size and proliferation are likely culprits in causing the disorder, though perhaps not the only ones.

These mutations, known as de novo somatic mutations, are genetic changes in the cells of the brain. Because they are in non-sex organs, the mutations are not transmitted to the child by either parent. (more…)

Gene Mutation Discovery Sparks Hope For Effective Endometriosis Screening

By Guest PostFebruary 9, 2012Health, Scienceabdominal cavity, cervix, chronic pelvic pain, endometrial growth, endometrial risk, endometriosis, gene mutation, genetic basis, hugh s taylor, infertility, joanne weidhaas, kras gene, kras protein, mutation, olga grechukhina, ovaries, rafaella petracco, school of medicine, shota popkhadze, therapeutic target, uterine tissue, vagina, yale

Researchers at Yale School of Medicine have, for the first time, described the genetic basis of endometriosis, a condition affecting millions of women that is marked by chronic pelvic pain and infertility. The researchers’ discovery of a new gene mutation provides hope for new screening methods.

Published in the Feb. 3 early online issue of EMBO Molecular Medicine, the study explored an inherited mutation located in part of the KRAS gene, which leads to abnormal endometrial growth and endometrial risk. In endometriosis, uterine tissue grows in other parts of the body, such as the abdominal cavity, ovaries, vagina, and cervix. The condition is often hereditary and is found in 5%-15% of women of reproductive age, affecting over 70 million women worldwide. (more…)

Mutated Gene Found in Dog Disease the Same in Humans, MU Researchers Find

By Guest PostApril 24, 2011Scienceanimal, cell function, columbia, dennis o’brien, dna test, fabiana farias, gary johnson, gene mutation, human neurological disorder, lynn steinhaus, man, martin katz, ncl, neuronal ceroid-lipofuscinosis, parkinson disease, seizures, tibetan terrier dogs, university of missouri

*Tibetian Terrier dogs could play key role in developing therapy for early-onset Parkinson’s*

COLUMBIA, Mo. – University of Missouri researchers believe both man and animal will benefit from their discovery that the same gene mutation found in Tibetan Terrier dogs can also be found in a fatal human neurological disorder related to Parkinson’s disease.

Fabiana Farias, a doctoral candidate in Area Genetics at the University of Missouri, found the mutation as part of her thesis research. Gary Johnson, associate professor of Veterinary Pathobiology; Martin Katz, professor of Veterinary Pathobiology, and Dennis O’Brien, a professor in the Department of Veterinary Medicine and Surgery, along with a host of researchers from MU’s College of Veterinary Medicine; College of Agriculture, Food and Natural Resources (CAFNR) and the Mason Eye Institute, recently published the findings in Neurobiology of Disease. (more…)

Tag Archives: gene mutation

Another Muscular Dystrophy Mystery Solved; MU Scientists Inch Closer to a Therapy for Patients

Gene Mutations Cause Massive Brain Asymmetry

Gene Mutation Discovery Sparks Hope For Effective Endometriosis Screening

Mutated Gene Found in Dog Disease the Same in Humans, MU Researchers Find