DNA AND TISSUES BANK: ACTIVITIES AND PERSPECTIVES IN NAPLES

The DNA bank of the “Sezione di Cardiomiologia e Genetica Medica del Dipartimento di Internistica Clinica e Sperimentale” of the 2nd Naples University is working since 1991. 3810 blood samples have been collected to day from patients affected by different neuromuscular disorders : 450 DMD; 186 BMD; 1200 D/BMD consultands; 688 LGMDs heterozigotes included; 208 FSHD; 67 MyD; 62 Primary cardiomyopathies; 53 SMA (intermediate - mild - X-linked ); 33 CMT (AD,AR,XL); 31 ED ( XL, AR ); 32 Dyskaliemic syndromes; 5 Malignant hyperthermia; 16 CMD; 6 CCD; 3 Lesch-Nyan Syndrome; 3 Oculo - pharyngeal myopathy ; 5 Friedreich Ataxia; 5 Bethlem Myopathy; 300 with isolated hyperCKemia. Identification of gene defects is performed, in collaboration with the Department of Patologia by both a modified quantitative PCR tecnique or by a novel automated device (DHPLC) useful to detect small mutations. In the last year the maximum effor was devoted to detect point-mutations in the dystrophin gene in order to select Duchenne patients that will benefit of gentamicine therapy. Among the 1200 females seeking advice for genetic counselling, 40% were identified as carriers, and 60% as not carriers. Among the 140 patients with limb-girdle-muscular dystrophies, so far 97 mutations have been identified [ 24 in sarcoglycan genes 70 in the calpain gene and 3 in the telethonin gene. In addition to blood samples, 258 skeletal and 43 myocardial specimens are stored in our tissue bank from patients with primary myopathies and/or cardiomyopathies. The collected material is available for both research purposes (identification of gene defects in rare neuromuscular disorders, large studies on well known neuromuscular disorders) and for diagnostic purposes (diagnostic revision of patients, genetic counselling, prenatal diagnosis ).