Dejerine-Sottas

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Cardiac Abnormalities Associated With Charcot-Marie-Tooth Disease

June 12, 2007

Filed under: Understanding the Cause

Charcot-Marie-Tooth disease is a sensorineural peripheral polyneuropathy. The association between Charcot-Marie-Tooth syndrome and cardiac involvement is controversial. Although patients with this disease may have cardiac conduction abnormalities, such abnormalities are often not recognized. Increasing numbers of case reports attest to the association between CMT and cardiac problems. We discuss the current understanding of the relationship between Charcot-Marie-Tooth disease and cardiac irregularities.

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Researchers Discover Gene Crucial for Nerve Cell Insulation

April 16, 2007

Filed under: Understanding the Cause

Researchers funded by the National Institutes of Health have discovered how a defect in a single master gene disrupts the process by which several genes interact to create myelin, a fatty coating that covers nerve cells and increases the speed and reliability of their electrical signals.
The discovery has implications for understanding disorders of myelin production. These disorders can affect the peripheral nervous system — the nerves outside the brain and spine. These disorders are known collectively as peripheral neuropathies. Peripheral neuropathies can result in numbness, weakness, pain, and impaired movement. They include one of the most common genetically inherited disorders, Charcot-Marie-Tooth disease, which causes progressive muscle weakening.

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New microscope allows scientists to track a functioning protein with atomic-level precision

December 14, 2005

Filed under: Understanding the Cause

A Stanford University research team has designed the first microscope sensitive enough to track the real-time motion of a single protein down to the level of its individual atoms. Writing in the Nov. 13 online issue of the journal Nature, the Stanford researchers explain how the new instrument allowed them to settle long-standing scientific debates about the way genes are copied from DNA—a biochemical process that’s essential to life. [Read more]

Glomerular Permeability Is Altered by Loss of P0, a Myelin Protein Expressed in Glomerular Epithelial Cells

September 17, 2005

Filed under: Understanding the Cause

Journal of the American Society of Nephrology
[Note: P0 is one of the genes implicated in a form of Dejerine-Sottas, though the mutation itself is different. You can read more about P0 here.]
The myelin protein 0 (MPZ or P0) is a transmembrane glycoprotein that represents the most abundant myelin component. Mutations in the P0 gene are associated with one form of autosomal dominant demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease type 1B (CMT1B). Because CMT1 may be associated with renal involvement, mostly focal segmental glomerulosclerosis, we hypothesized that P0 could be expressed in the kidney. P0 mRNA was detected by reverse transcriptase-PCR in the human and mouse renal cortex. P0 transcripts were identified by in situ hybridization at different stages of the mouse kidney development, especially in embryonic structures that give rise to the glomerulus. P0 protein was also detected by Western blot in human and rat glomerular extracts and in a human podocyte cell line using a monoclonal anti-P0 antibody. Immunofluorescence studies on human kidney sections showed that the podocytes were intensely labeled. Immunogold electron microscopy disclosed a predominant staining of the membranes of intracellular vesicles in podocytes. P0 was also detected in the podocyte cell membrane, including at the foot processes. P0-/- mice exhibited mild growth retardation and demyelinating neuropathy similar to the one observed in patients with CMT1B. They also presented mild albuminuria, without significant ultrastructural change of the glomerular basement membrane or the podocytes. These results demonstrate that P0, the major myelin protein, is also expressed during nephrogenesis and in mature kidney, mostly in podocytes. They suggest that P0 gene mutations might be involved in renal diseases.

Role of toxins in inherited disease, Washington State University study

June 4, 2005

Filed under: Understanding the Cause

From Medical News Today: A disease you are suffering today could be a result of your great-grandmother being exposed to an environmental toxin during pregnancy.
Researchers at Washington State University reached that remarkable conclusion after finding that environmental toxins can alter the activity of an animal’s genes in a way that is transmitted through at least four generations after the exposure. Their discovery suggests that toxins may play a role in heritable diseases that were previously thought to be caused solely by genetic mutations. It also hints at a role for environmental impacts during evolution.
“It’s a new way to think about disease,” said Michael K. Skinner, director of the Center for Reproductive Biology. “We believe this phenomenon will be widespread and be a major factor in understanding how disease develops.”
The work is reported in the June 3 issue of Science Magazine.

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Mosaic Mouse Technique Offers A Powerful New Tool To Study Diseases And Genetics

May 7, 2005

Filed under: Understanding the Cause

From Science Daily:
A powerful laboratory technique used by fruit fly geneticists for more than a decade is now available to scientists studying genes and diseases in mice.
Writing in the May 6 edition of the journal Cell, researchers from Stanford University describe a streamlined method for creating a “genetic mosaic mouse”–a rodent whose body is genetically engineered to produce small clusters of cells with mutated genes.
The new technique, called Mosaic Analysis with Double Markers (MADM), was developed in the laboratory of Liqun Luo, professor of biological sciences at Stanford who was recently named an investigator with the Howard Hughes Medical Institute.
“With MADM, you can look at a tiny subset of cells and study gene function at a very high resolution,” says Luo, who also is affiliated with the Neuroscience Institute at the Stanford School of Medicine. “Our method can be used to study a variety of tissues, such as the skin, heart and nervous system.”
Mosaics are designed to give researchers an opportunity to observe what happens when a specific gene is removed from a small cluster of cells in a living animal. With MADM, cells carrying an altered gene of interest actually turn green for easier observation.

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