Genetic Studies of Manic-depressive lllness*

Abstract

The Unipolar (UP) and Bipolar (BP) forms of affective illness appear not to be genetically and physiologically identical, although the degree of overlap in family and biologic pharmacologic studies is considerable. It appears likely that at least a subgroup of UP illness shares its genetic diathesis with BP illness. The hypothesis of monoamine alterations associated with the affective illnesses has led to studies of genetics of enzymes of monoamine metabolism as observed in peripheral blood, erythrocyte catechol-O-methyl-transferase (COMT), platelet monoamine oxidase (MAO), and plasma dopamine-beta-hydroxylase (DBH). These are under genetic control and show some differences between patients with affective illness and controls, but these differences have not been consistently propagated through families along with the disorder. Linkage of BP illness to markers on the X-chromosome has been reported, but the evidence has internal inconsistencies which must be resolved before the phenomenon can be accepted. Association of BP illness with specific HLA types has also been reported, but efforts at replication have been unsuccessful. Mathematical models of transmission applied to family study data do not consistently support the same mode of transmission when applied to data collected at different centers.

Zum Modell ,,Universalgenese der Psychosen"

“…Mit unserem Exkurs zu diesen sicher notwendigen Untersuchungen der zitierten Autoren sollte nur exemplifiziert werden, wie wenig derartige Ergebnisse geeignet sein können, die Entitätenlehre zu stützen. Es handelt sich hier um ein dankenswerterweise besonders gut belegtes Schulbeispiel für die Variationsmäglichkeiten von pathogenetisch prinzipiell einheitlichen psychischen Verfassungen, das uns anregen sollte, im Sinne von Gershon (1980) nach genetischen und anderweitigen biologischen Gründen für derartige phänotypische Auslenkungen zu suchen.…”

Searching Susceptibility Loci for Bipolar Disorder: A Sib Pair Study on Chromosome 12

“…At the same time, many classic genetic studies suggested that susceptibility to mood disorders consists of genetic features, common both to unipolar and bipolar disorders, and specific genetic factors for bipolar disorder [13][14][15][16] .…”

Familially Accumulated Schizophrenia (Folie à Cinq) in Association with Stein-Leventhal Syndrome

“…Genetic research occupies an important place in the studies directed at clarifying the aetiology of the endogenous psychoses [Gershon, 1980]. Besides analyses of family trees and epidemiological studies, attention is now being directed at marker, linkage, and association analyses.…”