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New method for obtaining information useful for the diagnosis of autoimmune diseases

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Authors: Manuel Jesús Martínez Valdivia

The UCA research group “Molecular Analysis of the Human Centromere” working in collaboration with the Hospital “Puerta del Mar”, Cadiz, and the Hospital of Jerez, has developed a new method for obtaining information useful for the diagnosis of autoimmune diseases, and in particular of scleroderma, and for evaluating their extent and seriousness.

Description

Scleroderma is a disease of the diffuse connective tissue characterized by changes in the skin, blood vessels, skeletal muscles and internal organs. Currently, the causes of this disease are not known, nor is it known whether it is a set of several diseases that affect the connective tissue.

The diagnosis can be very difficult, particularly in the initial stages of the disease. In fact, many of the symptoms are common or may coincide with those of other diseases, especially those of the connective tissue, such as rheumatoid arthritis and systemic erythematosus lupus.

Although scleroderma can be detected by its most visible symptoms, its presence cannot be demonstrated by one single test. Diagnosis is performed by specialist doctors with wide experience, taking into account the patient’s medical history, a meticulous physical examination, complementary tests, including laboratory tests, and other studies.

When the diagnosis is made, it is important not only to confirm the presence of scleroderma, but also to determine how far it has spread and how serious it is. The involvement of the

internal organs must therefore be considered.

With respect to laboratory tests, scleroderma is characterized by the presence of different auto antibodies in the blood, among them the anti-centromere auto antibodies (ACAs). These are auto antibodies that target the proteins present in the centromere(the region of the chromosome that separates its two arms and in which the two chromatids are joined and which serves to join together the fibres of the spindle apparatus during cellular division).

More than 60 different proteins are found in the centromere. Among the principal proteins of the centromere detected by the ACA are CENPA, CENPB and CENPC. In particular, the ACA has been demonstrated to be highly specific for the clinical form of scleroderma known as the limited cutaneous form.

Currently, the existing diagnostic kits for the diagnosis of scleroderma are based on techniques that detect anti-CENPB antibodies. However, it is very important to have knowledge of the presence of other ACAs different from CENPB, since this would make it possible to identify patients with different variants of scleroderma and/or patients with different clinical responses to existing treatments.

The researchers have concentrated on studying the CENPI protein of the centromere as a new marker that would allow detection of the presence of a subtype of scleroderma associated with suffering autoimmune hepatic disorders resulting from scleroderma. It has been observed that a significant number of the patients with anti-CENPI antibodies presented simultaneously auto antibodies characteristic of hepatic autoimmune disease and/or confirmed hepatic autoimmune disease. Therefore, the presence of anti-CENPI auto antibodies in patients with scleroderma has great potential in clinical diagnosis as a precocious marker of hepatic autoimmune disorder associated with scleroderma.

Advantages

 It is possible to design a diagnosis kit for erly detection of auto-inmune diseases.

 It is possible to extend the use of this kit to other diseases.

 The kit wil enable the application of specific and better directed treatments.

 The diagnose can be performed in a faster and cheaper way.

With this finding, it is hoped that a diagnostic kit could be designed for detecting the existence of CENB and CENPI antibodies, so that earlier and more certain diagnoses can be made. This, in turn, would enable doctors to apply more specific and better-directed treatments. This method can also be extrapolated to the detection of other anti centromeric protein antibodies, and this may make it possible to identify other subtypes of scleroderma.

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