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Neurogenetics

A number of brain banks have been founded recently (1) to meet the increasing research need of the neuroscience community for human tissue samples from well characterized cases of neurologic disease. The important function of these tissue banks is to collect and preserve neural tissue using standardized protocols and to help establish generally accepted diagnostic criteria, e.g., for common neurodegenerative disorders such as Alzheimer and Parkinson disease. Most neurogenetic research groups relying on the study of well-defined phenotypes will benefit from a close working relationship to brain banking institutions. This applies not only to RNA work using fresh frozen tissue but also to studies on DNA obtained for the analysis of somatic mutations, genotype-phenotype relationships, or the tissue distribution of mutated mitochondrial DNA. It has been shown that genomic DNA may be extracted from archival brains after many years of storage (2). Thus, retrospective linkage studies of late-onset neurological disease may be performed using PCR-based genotyping of short tandem repeat (STR) polymorphisms. Since up to 50% of all genes (and their defects) are expected to be expressed only in the nervous system to a significant extent (3), close collaboration between neurogeneticists and brain banks is likely to provide fertile ground for interaction in the years to come. Importantly, more affected and normal individuals may be willing to donate their brains to science after death if neurogenetic research continues to provide a rational basis for improved neurologic therapies. This is of crucial importance at times when autopsy rates continue to fall worldwide while there is no public awareness that a definitive diagnosis of most neurologic diseases requires detailed post-mortem examination of the brain and spinal cord.

References

1 F.F. Cruz-Sanchez, E. Tolosa (Eds). How to run a brain bank. Journal of Neural Transmission 1993; Suppl. 39:1-246
2 Kösel S, Graeber MB. Use of neuropathological tissue for molecular genetic studies: Parameters affecting DNA extraction and polymerase chain reaction. Acta Neuropathologica 1994; 88:19 25
3 Cantor CR, Smith CL. Consequences of mapping and sequencing the human genome for neurologic diseases. In: Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM (Eds) The Molecular and Genetic Basis of Neurological Disease. Butterworth Heinemann, Boston, 1993, pp. 977 987

Headings
brain banks
neurogenetic research

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