Possible therapy for one form of inherited nerve dysfunction

November 01, 2011

Hereditary neuropathies are common nervous system conditions characterized by progressive loss of muscle control and/or sensory function. There are no effective treatments. However, work in mice, by a team of researchers led by Florian Eichler, at Massachusetts General Hospital and Harvard Medical School, Boston, has revealed a rational candidate oral therapy for one hereditary neuropathy -- hereditary sensory and autonomic neuropathy type 1 (HSAN1).

HSAN1 is thought to be caused by the accumulation of molecules known as deoxysphingolipids, which are toxic for cultured sensory neurons. Eichler and colleagues found that oral administration of L-serine to mice with a disease that models HSAN1 reversed the accumulation of deoxysphingolipids and reduced the severity of neuropathy. As the accumulation of deoxysphingolipids in humans with HSAN1 was also reversed by oral administration of L-serine, these data provide a rationale for the authors suggestion that L-serine supplementation could provide a treatment option for HSAN1.

In an accompanying commentary, Steven Scherer, at the University of Pennsylvania, Philadelphia, agrees with Eichler and colleagues that a clinical trial of L-serine as a treatment for HSAN1 should be done but he cautions patients to remember that the approach has not yet been proven to be effective.
-end-
TITLE: Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1

AUTHOR CONTACT:
Florian S. Eichler
Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Phone: 617-724-7121; Fax: 617-643-6374; E-mail:
feichler@partners.org

View this article at:
http://www.jci.org/articles/view/57549?key=2bc381dd8e09d15886c4

ACCOMPANYING COMMENTARY
TITLE: The debut of a rational treatment for an inherited neuropathy?

AUTHOR CONTACT:
Steven S. Scherer
The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Phone: 215-573-3198; Fax: 215-573-4454; E-mail:
sscherer@mail.med.upenn.edu.

View this article at:
http://www.jci.org/articles/view/60511?key=27f04fb346b5d9c9a356

JCI Journals

Related Neuropathy Articles from Brightsurf:

Identified the cellular process by which Cisplatin chemotherapy causes neuronal damage
Cisplatin induces senescence of peripheral neurons through overexpression of the p21 protein, which would explain the neuropathy.

Penn researchers identify new genetic cause of a form of inherited neuropathy
Inherited mutations in a gene that keeps nerve cells intact was shown, for the first time, to be a driver of a neuropathy known as Charcot-Marie-Tooth disease.

NUS researchers identify novel protein to prevent neuropathy from chemotherapy
A team of researchers from the NUS Yong Loo Lin School of Medicine has identified a novel protein that would prevent the development of neuropathy, a major side effect of chemotherapy, in cancer patients.

Poor diet can lead to blindness
An extreme case of 'fussy' or 'picky' eating caused a young patient's blindness, according to a new case report published today [2 Sep 2019] in Annals of Internal Medicine.

Genetic marker linked to increased risk of diabetic peripheral neuropathy
This is the first real effort to have a genome wide search for genes predisposing to diabetic peripheral neuropathy.

Healthy fats improve nerve function in obese mice
Swapping dietary saturated fats for monounsaturated fats reverses nerve damage and restores nerve function in male mice, finds new preclinical research published in JNeurosci.

Chemotherapy-induced peripheral neuropathy in long-term survivors of childhood cancer
A new study assesses chemotherapy-induced peripheral neuropathy in 121 long-term survivors of childhood cancer to detail clinical, functional, neurophysiological and patient-reported outcomes of the condition.

Diagnosing, treating neuropathy symptoms in cancer patients not exact science
Most of the roughly 15.5 million cancer survivors in the US receive chemotherapy, and roughly 65 percent develop some degree of the chemotherapy-induced nerve damage known as peripheral neuropathy.

MDI Biological Laboratory discovery could lead to new therapies for diabetics
New research by MDI Biological Laboratory scientist Sandra Rieger, Ph.D., has demonstrated that an enzyme she had previously identified as playing a role in peripheral neuropathy induced by cancer chemotherapy also plays a role in peripheral neuropathy caused by diabetes.

Researchers test first drug to prevent the onset of chemotherapy-induced neuropathy
Peripheral neuropathy is a very common side-effect of chemotherapy and may eventually lead to early discontinuation of treatment.

Read More: Neuropathy News and Neuropathy Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.