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The Naxos syndrome
A husband-and-wife team discover a new disease in the heart of the Aegean Sea.
Making a diagnosis is what doctors are trained to do. Though it can be a tricky business, usually, a little time spent in consultation with colleagues and the medical texts is enough to yield an answer to the nerve-wracking question: what's wrong with me, doc?
But colleagues and books were of little help to Nikos Protonotarios and Adalena Tsatsopoulou when it came to identifying the heart condition, or cardiomyopathy, of some of the patients they first encountered on the Aegean island of Naxos in the course of their obligatory post-graduate countryside service.
The said patients exhibited heart problems, which included tachycardia (fast heart rate) and cardiac arrhythmias (irregular heart beat), sometimes leading to congestive heart failure and sudden death, especially in athletic young people.
The doctors were soon able to attribute these symptoms to a condition known as Arrhythmogenic Right Ventricular Dysplasia (ARVD), in which the muscle of the heart's right ventricle is gradually replaced by fibrous and fatty tissue, rendering it incapable of contracting and pumping properly.
Still, unlike other known forms of ARVD, Naxos patients exhibited some exotic symptoms that defied clinical classification: they all had woolly hair (similar to the type of hair found in normal people of African descent), and palmoplantar keratoderma , a characteristic thickening of the skin of their palms
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and soles of the feet.
As it turned out, the physicians' astute observations and dogged investigation eventually led them to the discovery of a new disease, hitherto unrecorded by medical annals. Protonotarios and Tsatsopoulou, who had returned to live and work in Protonotarios' native Naxos after completing their specialty training (Protonotarios in cardiology, Tsatsopoulou in paediatrics), officially described the condition in the British Heart Journal in 1986.
As they explained in the Greek daily Eleftherotypia, they named their synrome Naxos Disease, to emphasize their conviction that a small island in the Cyclades could, in fact, contribute to science as much as any major urban medical centre. Their decision to spend their lives and careers in a place on the periphery had not been, as many friends had warned, a mistake.
Gene genie Significantly, too, the mysterious syndrome also appeared to run in families, (it is inherited in an autosomal recessive fashion), implying that the cause could be pinned down to one or a few genes. In 1995 Protonotarios and Tsatsopoulou, in collaboration with William Mckenna of the Department of Cardiological Sciences at St Georges Hospital Medical School, (University of London), began an investigation to try to find a genetic mutation common to all Naxos disease sufferers. By 1998, they had succeeded: the mutation, consisting of two missing base pairs of the DNA chain, was traced in chromosome 17.
Two years later, the team also identified the specific gene within which the mutation was located, a gene coding for the protein plakoglobin, which significantly contributes to the cohesion and communication among cells.
It is the first time a gene of any form of ARVD has been identified, or the cell junction implicated in the pathogenesis of a cardiomyopathy, opening up new insight into the causes of heart failure. A European Commission research project to study arrhythmogenic right ventricular cardiomyopathy has already been initiated. Participants in the project include McKenna and Protonotarios, as well as clinical researchers at institutions in Italy, Poland, France and Germany.
Because, as stated, the disease's gene is recessive, an individual must inherit two copies, one from each parent, to be stricken with the disease. This can happen when two individuals who are both carriers, or have one copy each of the gene, have children. As is the case with thalassemia, on average one
quarter of such a couple's offspring will be born with Naxos disease. Until recently, it was impossible for someone to know whether or not their children were at risk of inheriting the disease.
With the discovery of the Naxos gene, however, it is possible to identify carriers by a simple genetic test, available at the Yiannis Protonotarios Medical Centre of Naxos, and the Pheidippides Project of the Hellenic Heart Foundation in Athens.
Expanding research In addition to Naxos, cases of the new disease have been identified on the Aegean islands of Milos and Evia. A genetic screening project is currently being conducted on Naxos, Milos and Crete, in order to determine how widespread the mutation is in these populations. (A preliminary estimate for Naxos is 1/600).
Further studies may also help enlighten researchers as to the veracity of an intriguing hypothesis: a variant form of ARVD is commonly found among members of the Veneto region of Italy. Is there a connection between the syndromes and could the mutation for Naxos disease have arrived on the island in the blood of the Venetians who ruled the Cyclades in the Middle Ages?
The discoverers of Naxos disease have seen their efforts recognized both at home and abroad. Their island too has shown its appreciation and support. Most recently, Naxos Municipality organized an international summer meeting on the couples research, entitled Naxos: A place where studies on cardio-myopathies meet Aegean history.