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Archive - Apr 27, 2013

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Hitting “Reset” in Protein Synthesis Restores Myelination in Model of Charcot-Marie-Tooth Disease

A potential new treatment strategy for patients with Charcot-Marie-Tooth disease is on the horizon, thanks to research by neuroscientists now at the University at Buffalo’s (UB’s) Hunter James Kelly Research Institute and their colleagues in Italy and England. The institute is the research arm of the Hunter's Hope Foundation, established in 1997 by Jim Kelly, Buffalo Bills Hall of Fame quarterback, and his wife, Jill, after their infant son Hunter was diagnosed with Krabbe leukodystrophy, an inherited fatal disorder of the nervous system. Hunter died in 2005 at the age of eight. The institute conducts research on myelin and its related diseases with the goal of developing new ways of understanding and treating conditions such as Krabbe disease and other leukodystrophies. Charcot-Marie-Tooth or CMT disease, which affects the peripheral nerves, is among the most common of hereditary neurological disorders; it is a disease of myelin and it results from misfolded proteins in cells that produce myelin. The new findings were published online on April 1, 2013 in The Journal of Experimental Medicine. They may have relevance for other diseases that result from misfolded proteins, including Alzheimer’s disease, Parkinson’s, multiple sclerosis, Type 1 diabetes, cancer, and mad cow disease. The paper shows that missteps in translational homeostasis, the process of regulating new protein production so that cells maintain a precise balance between lipids and proteins, may be how some genetic mutations in CMT cause neuropathy. CMT neuropathies are common, hereditary, and progressive; in severe cases, patients end up in wheelchairs. These diseases significantly affect quality of life but not longevity, taking a major toll on patients, families, and society, the researchers note.

Algorithm Will Guide Treatment of Genetic Childhood Kidney Disease (ARPKD)

A collaborative team of physician-scientists at the Medical College of Wisconsin (MCW) and the Children's Hospital of Wisconsin Research Institute has developed a new evidence-based, clinical algorithm to help physicians treat complex patients with autosomal recessive polycystic kidney disease (ARPKD). Their invited review article, written by Grzegorz Telega, M.D., associate professor of pediatrics (gastroenterology and hepatology) at MCW and program director of hepatology at Children's Hospital of Wisconsin; David Cronin, II, M.D., Ph.D., professor of surgery and member of the new Transplantation Institute; and Ellis D. Avner, M.D. professor of pediatrics (nephrology) and physiology at MCW, and director of the Multidisciplinary Childhood PKD Program (MCPP) at Children's Hospital of Wisconsin Research Institute, was published online on April 17, 2013 in Pediatric Transplantation. ARPKD is a rare genetic disorder that causes progressive disease of the kidneys and liver. Of the patients with ARPKD who survive the first year of life, more than 85 percent will reach their tenth birthday. However, despite dramatic improvements in overall survival and quality of life, nearly 50 percent of those survivors develop end-stage kidney disease during that time. Based on a comprehensive analysis of published medical literature, unique insights generated from the MCPP (established in 2005 and the only such program in the U.S.) and more than 50 years of clinical experience by the authors in treating complex problems in ARPKD patients, an algorithm was developed to guide patient therapy. Of particular note, the authors recommend an innovative approach for a subgroup of ARPKD patients with severe kidney and liver disease: simultaneous kidney and liver transplantation.