another vitamin reference

[Guest guest]

Thanks to everyone for the feedback. A little searching and I found this:

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

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.

PMID: 14577517 [PubMed - indexed for MEDLINE]