CMT 1X: Study of antibodies to PMP22, IL-6 and TNF-alpha concentrations in serum

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Neurosci Lett. 2007 Aug 3

Study of antibodies to PMP22, IL-6 and TNF-alpha concentrations in

serum in a CMTX1 family.

Da Y, Jia J.

Department of Neurology, Xuan Wu Hospital, Capital Medical

University, Beijing 100053, China.

To further understand X-linked dominant Charcot-Marie-Tooth disease

(CMTX1), we followed a family of 22 members in China, including 8

patients, 2 asymptomatic carriers and 12 normal family members.

Twenty-two family members as well as 60 normal controls unrelated to

this family were screened for point mutation by denaturing high

performance liquid chromatography (DHPLC). All patients and

asymptomatic carriers from this family, but none of the normal

population controls, showed a T-C transition at position 266 in

codon 89 of exon 2 of connexin 32, resulting in a leucine to proline

(L89P) exchange.

To study whether the immune system is involved in the pathogenesis

of CMTX1 patients and asymptomatic carriers, we measured serum

concentrations of antibodies to peripheral nerve myelin protein 22

(PMP22), interleukin-6 (IL-6) and tumour necrosis factor alpha (TNF-

alpha) by ELISA. Serological results were also compared with those

from GBS patients (n=11) and with normal subjects (n=20). Our

analysis showed anti-PMP22 sera reactivity in 50.0% of CMTX1

patients, 63.6% of GBS patients and 10% of normal controls.

Our results also indicated that anti-PMP22 antibodies in the CMTX1

family varied with sex. Anti-PMP22 antibodies were found in all male

patients but not in all females, which may be one of the reasons

that male patients usually have more severe clinical symptoms than

that of female patients. There was no statistical difference in

serum concentrations of IL-6 and TNF-alpha between CMTX1 patients

and normal subjects.

In conclusion, we identified a L89P mutation for the first time in a

CMTX1 family in China and an associated response to PMP22 in males.