NEUROMUSCULAR BANK OF TISSUES AND DNA SAMPLES

The bank collects about 6500 tissue samples stored frozen and about 300 new samples are collected every year. The bank stores the slides of stained sections of about 7000 muscle biopsies, and 2400 muscle specimens embedded in epoxy resin for electron microscopy. About 2000 DNA samples from patients and relatives with inherited neuromuscular disorders are stored. A standard protocol for collection of biopsies is followed: at the arrival in our laboratory, each sample is subdivided in several fragments, stored both in a bank of frozen tissues for morphological and biochemical studies, and in a bank for tissue culture, where more than 2400 muscle biopsy samples are kept in "vital freezing" in liquid nitrogen. Since most of muscle diseases are inherited, in many of them the genetic or protein defect has been identified. However, the parallel clinical follow-up of the patients enables to assess a more precise diagnosis and implies occasional revision and updating of diagnoses. A computer database has been implemented, in which are recorded the data of patients who underwent muscle biopsy and DNA sample collection (clinical report, histopathological and molecular diagnosis, sample code number, storage location). A new web site page has been implemented to describe the presence and activity of the bank. During the last year, hundreds of specimens have been transferred to other italian and foreign laboratories, to analyse muscle specific proteins and transcripts, and to identify gene mutations in rare muscle disorders. The availability of muscle tissues stored in our bank has allowed both scientific collaborations of great importance for a better comprehension of the pathogenetic mechanisms in muscle disorders, and to obtain a molecular, biochemical and pathological diagnosis in a large number of neuromuscular patients.