TELOMERE REDUCTION IN SCLERODERMA PATIENTS - A POSSIBLE CAUSE FOR CHROMOSOMAL INSTABILITY

We have hypothesized that the chromosomal instability observed in scle roderma patients and their family members may result from the loss of long stretches of the telomeric repeat which is found al the ends of a ll linear chromosomes. We examined the telomere lengths in scleroderma (SSc) patients (n = 43), their family members (n = 182) and in age-ma tched controls (n = 96) using restriction fragment length polymorphism (RFLP) and chemiluminescent labelled probes. The average loss of telo meric DNA in SSc patients and family members was found to be 3 kb when compared to the controls. This loss was not related to age or the dur ation of the disease. These results may reflect a genetic predispositi on for chromosomal instability in these families, or exposure to a com mon environmental agent. A wide variety of common environmental agents are known to produce chromosomal aberrations; these include fungicide s, pesticides, ail pollutants and drugs. Scleroderma-like syndromes ma y be induced by some of these agents.