Navigation Links
Genetics of ALS progression
Date:5/31/2008

An 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. Ichijos 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.


'/>"/>

Contact: Heather Cosel-Pieper
coselpie@cshl.edu
Cold Spring Harbor Laboratory
Source:Eurekalert

Page: 1

Related biology news :

1. Genetics determine optimal drug dose of common anticoagulant
2. American College of Medical Genetics responds to new FDA labeling decision for warfarin
3. Rutgers Genetics receives $7.8 million for autism research
4. UD leads $5.3-million research project on rice epigenetics
5. UD leads $5.3-million research project on rice epigenetics
6. Wasp genetics study suggests altruism evolved from maternal behavior
7. Maynard Olson receives $500,000 Gruber Genetics Prize
8. UBC discovery unlocks tree genetics, gives new hope for pine beetle defense
9. Ecologists, material scientists pursue genetics of diatoms elegant, etched casing
10. Scientists achieve major genetics breakthrough
11. Environmental epigenetics has potential for preventing and treating disease
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/31/2016)... 31, 2016   ... the "Company") LegacyXChange is excited to release ... soon to be launched online site for trading 100% ... ) will also provide potential shareholders a sense of ... to an industry that is notorious for fraud. The ...
(Date:3/22/2016)... 2016 According to ... for Consumer Industry by Type (Image, Motion, Pressure, ... & IT, Entertainment, Home Appliances, & Wearable ... 2022", published by MarketsandMarkets, the market for ... USD 26.76 Billion by 2022, at a ...
(Date:3/17/2016)... 17, 2016 ABI Research, the leader ... global biometrics market will reach more than $30 ... from 2015. Consumer electronics, particularly smartphones, continue to ... anticipated to reach two billion shipments by 2021 ... Pavlakis , Research Analyst at ABI Research. "Surveillance ...
Breaking Biology News(10 mins):
(Date:5/4/2016)... , ... May 04, 2016 , ... The Children’s Tumor ... disorder that causes tumors to grow on nerves throughout the body. It affects 1 ... Through numerous community events held during the month of May, as well as online ...
(Date:5/3/2016)... , May 3, 2016 ... (Genomics, Drug Discovery, Gene Expression) Lab-on-a-chip (IVD ... (Academics Institutes, Diagnostics Centers), Fabrication Technology (Microarrays, ... MarketsandMarkets, the market is expected to reach ... 7.63 Billion in 2015, growing at a ...
(Date:5/3/2016)... , ... May 03, 2016 , ... ... the addition of Dr. Nancy Gillett to its Board of Directors. Dr. Gillett ... served as Corporate Executive Vice President and Chief Scientific Officer. A board-certified veterinary ...
(Date:5/3/2016)... WOODLANDS, Texas , May 3, 2016  Dr. ... certified plastic surgeon in The Woodlands, Texas ... that destroys 24 percent of treated fat cells in ... and woman. Close to 90 percent of Americans report ... treatment options. Nonsurgical fat reduction procedures are a growing ...
Breaking Biology Technology: