Type 1A antioxidant CQ10, ALA + E for CMT -> to Sally

[Guest guest]

Sally,

Don't know if you saw this when it came out. This is just the

abstract. It mentions CQ10, ALA and E for CMT management. ~ Gretchen

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J Investig Med. 2003 Sep;51(5):261-83.

Erratum in:

J Investig Med. 2004 Jan;52(1):50.

Molecular mechanisms, diagnosis, and rational approaches to

management of and therapy for Charcot-Marie-Tooth disease and related

peripheral neuropathies.

Saifi GM, Szigeti K, Snipes GJ, CA, Lupski JR.

Department of Molecular and Human Genetics, Baylor College of

Medicine, Houston, TX, USA.

During the last decade, 18 genes and 11 additional loci harboring

candidate genes have been associated with Charcot-Marie-Tooth disease

(CMT) and related peripheral neuropathies. Ten of these 18 genes have

been identified in the last 2 years. This phenomenal pace of CMT gene

discovery has fomented an unprecedented explosion of information

regarding peripheral nerve biology and its pathologic manifestations

in CMT. This review integrates molecular genetics with the clinical

phenotypes and provides a flowchart for molecular-based diagnostics.

In addition, we discuss rational approaches to molecular

therapeutics, including novel biologic molecules (eg, small

interfering ribonucleic acid [siRNA], antisense RNA, and ribozymes)

that potentially could be used as drugs in the future. These may be

applicable in attempts to normalize gene expression in cases of CMT

type 1A, wherein a 1.5 Mb genomic duplication causes an increase in

gene dosage that is associated with the majority of CMT cases.

Aggresome formation by the PMP22 gene product, the disease-associated

gene in the duplication cases, could thus be avoided. We also discuss

alternative therapeutics, in light of other neurodegenerative

disorders, to disrupt such aggresomes.

Finally, we review rational therapeutic approaches, including the use

of antioxidants such as vitamin E, coenzyme Q10, or lipoic acid to

relax potential oxidative stress in peripheral nerves, for CMT

management.