Research Models

CONTENTS

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Background

What is MLD?

Patterns of Inheritance

Diagnosis

Clinical Presentation
and Course

Treatment

Research

Research

What are we doing to find a cure?

[Mutant Enzyme Stabilization] [Animal Models] [Other]

Many investigations are currently taking place in research labs across the nation. To learn more about a particular area of research please use the links above.

Mutant Enzyme Stabilization:

There are studies looking for treatments which can stabilize mutant enzymes in MLD patients. If missing enzyme activity can be replaced, then perhaps demyelination can be prevented or perhaps reversed. The replacement of functional genes has been shown to be feasible in cultured skin fibroblasts, however patient application has yet to be perfected.

Animal Models:

There are no known animal models that occur naturally, however scientists have discovered a way to create MLD in animal species. Using fibroblasts cultured from MLD patients, animals may be given the disease for research purposes. While the present animal models we work with may not be used to investigate the nervous system specifically, they may address natural gene mutations. For instance, Arylsulfatase A deficient mice have been developed recently. It is difficult to use them in nervous system specific studies because they do not mimic the human disorder in a developmental sense. They may, however, allow us to investigate early manifestation of the genetic defects seen in MLD.

Other:

Many labs are in search of ways to diagnose MLD at earlier stages. They are also in search of more accurate, easier, and cheaper methods of testing parents to limit the number of MLD conceptions that take place. These studies range from improving diagnostic techniques such as chorionic villi sampling or amniocentesis, to genetic studies looking specifically at Arylsulfatase A activity in culture. CT and MRI laboratories are attempting to improve clinicians ability to identify MLD through nervous system imaging techniques. There are even labs that look specifically at the decreases found in nerve conduction velocities among these demyelinating axons. There is a lot of information out there on current research, and discoveries are being made every day. If you are interested in learning more about research in this area I suggest you visit your local library and search through the relevant periodicals.

[ Background ] [ What is MLD? ] [ Patterns of Inheritance ] [ Diagnosis ] [ Presentation and Course ] [ Treatment ] [ Research Models ] [ References ]

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