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The Lessons of Homozygous Porphyria

Arch Neurol. 2004;61:1650-1651.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

A genomic approach to the human central nervous system and its crowning intellect is now possible through the analysis of relevant genes (neural genome), RNA (neural transcriptome), proteins (neural proteome), and protein interactions (systems biology).¹ Orienting this exploration are structural relationships, exemplified by 82 (56%) of 146 genes causing human neurologic disease that are similar (homologous) to genes in nematode worms and fruit flies.² Human neural genes can further be grouped by function (eg, myelin synthesis) or sequence similarity (paralogs such as the hexaminidase genes for Tay-Sachs and Sandhoff diseases), showing remarkable expansion and redundancy that can provide alternative pathways for therapy.³ Not to be forgotten in this sea change of technology are human neurogenetic diseases with their parables linking mind and molecule, a link used elegantly by Solis et al⁴ to suggest a novel mechanism for mental illness and neurodegeneration.

More than 1200 (33%) of approximately 4000 human genetic . . . [Full Text of this Article]

AUTHOR INFORMATION

Golder N. Wilson, MD, PhD

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Acute Intermittent Porphyria: Studies of the Severe Homozygous Dominant Disease Provides Insights Into the Neurologic Attacks in Acute Porphyrias
Constanza Solis, Antonio Martinez-Bermejo, Thomas P. Naidich, Walter E. Kaufmann, Kenneth H. Astrin, David F. Bishop, and Robert J. Desnick
Arch Neurol. 2004;61(11):1764-1770.
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