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Genetics of ALS progression
June 02, 2008An upcoming paper from Drs. Hidenori Ichijo and Hideki Nishitoh (The University of Tokyo) and colleagues lends new and valuable insight into the genetics of ALS.
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a rapidly progressive, fatal neurological disease involving the degeneration and death of motor neuron cells.
ALS is one of the most common neuromuscular diseases worldwide, affecting as roughly 25,000 Americans, with an estimated 5,000 new diagnoses each year. The life expectancy of ALS patients is usually 3 to 5 years after diagnosis.
5-10 percent of all ALS cases are inherited. About 20% of these familial ALS cases are the result of an inherited genetic mutation on chromosome 21, in the gene encoding for the superoxide dismutase 1 (SOD1) enzyme. SOD1 is an antioxidant that protects the body from DNA damage caused by the accumulation of free radicals within cells. However, several reports have demonstrated that mutated SOD1 toxicity is not due to decreased antioxidant activity, but rather to a 'gain of unknown toxic function'.
In their upcoming paper, Dr. Ichijo and colleagues delineate how mutations in SOD1 lead to motor neuron cell death and the progression of ALS. The researchers characterized a molecular pathway by which mutated SOD1 contributes to the accumulation of malformed proteins inside the endoplasmic reticulum (ER) compartment of motor neuron cells. Beyond a certain threshold, this ER stress induces cell death.
Interestingly, Dr. Ichijo's team found that the inactivation of certain key factors in this pathway could mitigate neurodegeneration and prolong survival in a mouse model of inherited ALS.
Although not all familial ALS cases are due to the SOD1 mutation (and not all persons with a mutated form of SOD1 develop ALS), further insight into mechanism of the disease will undoubtedly aid in the development of an effective treatment for ALS.
Cold Spring Harbor Laboratory
5-10 percent of all ALS cases are inherited. About 20% of these familial ALS cases are the result of an inherited genetic mutation on chromosome 21, in the gene encoding for the superoxide dismutase 1 (SOD1) enzyme. SOD1 is an antioxidant that protects the body from DNA damage caused by the accumulation of free radicals within cells. However, several reports have demonstrated that mutated SOD1 toxicity is not due to decreased antioxidant activity, but rather to a 'gain of unknown toxic function'.
In their upcoming paper, Dr. Ichijo and colleagues delineate how mutations in SOD1 lead to motor neuron cell death and the progression of ALS. The researchers characterized a molecular pathway by which mutated SOD1 contributes to the accumulation of malformed proteins inside the endoplasmic reticulum (ER) compartment of motor neuron cells. Beyond a certain threshold, this ER stress induces cell death.
Interestingly, Dr. Ichijo's team found that the inactivation of certain key factors in this pathway could mitigate neurodegeneration and prolong survival in a mouse model of inherited ALS.
Although not all familial ALS cases are due to the SOD1 mutation (and not all persons with a mutated form of SOD1 develop ALS), further insight into mechanism of the disease will undoubtedly aid in the development of an effective treatment for ALS.
Cold Spring Harbor Laboratory
ALS Current Events and ALS News RSSNew understanding about mechanism for cell death after stroke leads to possible therapy
Scientists at the Brain Research Centre, a partnership of the University of British Columbia Faculty of Medicine and Vancouver Coastal Health Research Institute, have uncovered new information about the mechanism by which brain cells die following a stroke, as well as a possible way to mitigate that damage.
Schizophrenia gene's role may be broader, more potent, than thought
UCSF scientists studying nerve cells in fruit flies have uncovered a new function for a gene whose human equivalent may play a critical role in schizophrenia.
Compound shows potential for slowing progression of ALS
A chemical cousin of a drug currently used to treat sepsis dramatically slows the progression of amyotrophic lateral sclerosis, better known as ALS or Lou Gehrig's disease, in mice.
Dysfunctional protein dynamics behind neurological disease?
Researchers at Lund University, Sweden, have taken a snapshot of proteins changing shape, sticking together and creating structures that are believed to trigger deadly processes in the nervous system.
New guidelines identify best treatments to help ALS patients live longer, easier
New guidelines from the American Academy of Neurology identify the most effective treatments for amyotrophic lateral sclerosis (ALS), often called Lou Gehrig's disease. The guidelines are published in the October 13, 2009, issue of Neurology®, the medical journal of the American Academy of Neurology.
LSUHSC's England plays key role in developing new ALS treatment guidelines
Dr. John England, Professor and Chairman of Neurology at LSU Health Sciences Center New Orleans, analyzed research findings and was responsible for the quality and accuracy of evidence analysis and the conclusions of the studies resulting in new guidelines for treating Lou Gehrig's disease, or amyotropic lateral sclerosis (ALS).
Scientists encouraged by new mouse model's similarities to human ALS
A new mouse model of amyotrophic lateral sclerosis (ALS) closely resembles humans with the paralyzing disorder, researchers at Washington University School of Medicine in St. Louis report.
Amyotrophic lateral sclerosis may involve a form of sudden, rapid aging of the immune system
Premature aging of the immune system appears to play a role in the development of amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, according to research scientists from the Maxine Dunitz Neurosurgical Institute at Cedars-Sinai Medical Center, the Weizmann Institute of Science in Israel, and Sheba Medical Center in Israel.
Michigan Tech Mathematicians Identify Genes Linked to Lou Gehrig's Disease
Michigan Technological University researchers have linked three genes to the most common type of amyotrophic lateral sclerosis (ALS), generally known as Lou Gehrig's disease.
Jet-propelled Imaging for an Ultrafast Light Source
John Spence, a physicist at Arizona State University, is a longtime user of the Advanced Light Source at Lawrence Berkeley National Laboratory, where he has contributed to major advances in lensless imaging.
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