Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011570 (depression)
 172,036 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Genetic factors have been evidenced in the etiology of manic-depressive syndromes through twins, morbidity risk studies, linkage studies with genetic markers such as color blindness and the Xga blood group, as well as through adoption studies. Most genetic studies indicate that there is a genetic and biological heterogeneity in manic-depressive illness. Among these manic-depressive syndromes, one group is consistent with a dominant X-linked transmission of the disease. From the neurochemical point of view, most investigators emphasize the importance of cerebral neurotransmitter substances such as catecholamines and indolamines in the pathogenesis of bipolar depressive states. According with this hypothesis, depression is associated with a functional deficit in brain monoamines while mania may be due to an hyperproduction of monoamines. These neuropharmacological studies are of importance because they also have neuroendocrine implications. Some pituitary hormones are secreted under the control of brain monoamines, and they are also implicated in the pathogenesis of depressive states.
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PMID:[Contribution of biology to nosology of depressive states. Neurochemical, endocrine and genetic factors (author's transl)]. 3 24

Bipolar affective disorder (manic-depressive disease) is a mental disturbance characterized by phases of both depression and mania. Mania is essential to the diagnosis and is characterized by elevated mood, flight of ideas, and increased psychomotor activity. Current psychiatric literature not only shows that this disease is familial but has also demonstrated, through linkage studies, that an X-linked dominant mode of inheritance adequately explains the strong prevalence of bipolar affective disorder in some families. The family discussed here shows many of the known clinical aspects of bipolar affective disorder. It serves as an example consistent with the X-linked dominant mode of inheritance. Knowledge of the genetic background of this disease aids the family physician by helping to identify members of the family likely to have acquired this condition. The family physician can then look for future problems in them and in their offspring, leading to earlier diagnosis and more effective management. Thus, a member of a bipolar family with supposed unipolar illness (depression only) might be better served with the prophylactic use of lithium carbonate because of his likelihood of possessing a bipolar genotype. The prophylactic use of this drug has been shown effective in reducing the frequency, duration, and intensity of both manic and depressive mood swings.
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PMID:Genetic aspects of manic-depressive disease in family practice. 84 63

Psychometric testing and psychiatric interviews were conducted on 13 families in which the women had undergone amniocentesis for the prenatal detection of a genetic defect in the fetus and, upon receiving positive results, elected to have a therapeutic abortion. The indication for amniocentesis was maternal age in two families, a previous child with Down's syndrome in one family, a previous child with a recessively inherited inborn error of metabolism in four families, and the mother being a carrier for an X-linked disease in six families. The incidence of depression following selective abortion may be as high as 92 per cent among the women and as high as 82 per cent among the men studied, and was greater than that usually associated with elective abortion for psychosocial indications or with delivery of a stillborn. Four families experienced separations during the pregnancy-abortion period. Despite the emotional trauma of the procedure, most of the families studied would repeat their course of action and consider selective abortion preferable to the alternative birth of a defective child. Several modifications in the amniocentesis and selective abortion procedure which might diminish the concomitant emotional trauma are suggested.
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PMID:The psychological sequelae of abortion performed for a genetic indication. 114 32

Seven members of a family with an X-linked spastic paraparesis syndrome were analyzed by MR imaging and stimulated echo, solvent-suppressed proton nuclear magnetic resonance spectroscopy. The MR scans of three symptomatic males and two asymptomatic females demonstrated abnormal signal in the supratentorial white matter. Each of these patients had a proton spectroscopic examination of a 2 X 2 X 2 cm voxel localized to the abnormal white matter of the centrum semiovale. The spectra demonstrated depression of N-acetyl aspartate/creatine, N-acetyl aspartate/choline, and creatine/choline ratios compared with normal control subjects. Additionally, these patients had abnormal elevations of amino acid resonances in the 2.1-3.0 ppm range. In a patient with symmetric white matter signal intensity abnormalities, an asymmetric spectroscopic study correlated with asymmetric symptoms. One asymptomatic family member with a normal MR study had abnormal metabolite ratio measurements. She was referred for further evaluation, since the proton spectrum suggested she may possess the affected gene. If the findings in this study are duplicated in other cases of hereditary dysmyelinating syndromes, we believe the integrated MR/proton nuclear magnetic resonance spectroscopy examination will be of benefit in evaluating and counseling families with familial dysmyelinating disorders.
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PMID:Integrated MR imaging and proton nuclear magnetic resonance spectroscopy in a family with an X-linked spastic paraparesis. 188 68

Nineteen cases are described, including 12 cases from three different families and 7 nonfamilial cases, in which multisystem neurological disease was associated with acanthocytosis in peripheral blood and normal plasma lipoproteins. Mild acanthocytosis can easily be overlooked, and scanning electron microscopy may be helpful. Some neurologically asymptomatic relatives with significant acanthocytosis were identified during family screening, including some who were clinically affected. The mean age of onset was 32 (range 8-62) yrs and the clinical course was usually progressive but there was marked phenotypic variation. Cognitive impairment, psychiatric features and organic personality change occurred in over half the cases, and more than one-third had seizures. Orofaciolingual involuntary movements and pseudobulbar disturbance commonly caused dysphagia and dysarthria that was sometimes severe, but biting of the lips or tongue was rarely seen. Chorea was seen in almost all symptomatic cases but dystonia, tics, involuntary vocalizations and akinetic-rigid features also occurred. Two cases had no movement disorder at all. Computerized tomography often demonstrated cerebral atrophy. Caudate atrophy was seen less commonly, and nonspecific focal and symmetric signal abnormalities from the caudate or lentiform nuclei were seen by magnetic resonance imaging in 3 out of 4 cases. Depression or absence of tendon reflexes was noted in 13 cases and neurophysiological abnormalities often indicated an axonal neuropathy. Sural nerve biopsies from 3 cases showed evidence of a chronic axonal neuropathy with prominent regenerative activity, predominantly affecting the large diameter myelinated fibres. Serum creatine kinase activity was increased in 11 cases but without clinical evidence of a myopathy. Postmortem neuropathological examination in 1 case revealed extensive neuronal loss and gliosis affecting the corpus striatum, pallidum, and the substantia nigra, especially the pars reticulata. The cerebral cortex appeared spared and the spinal cord showed no evidence of anterior horn cell loss. Two examples of the McLeod phenotype, an X-linked abnormality of expression of Kell blood group antigens, were identified in a single family and included 1 female. The genetics of neuroacanthocytosis are unclear and probably heterogeneous, but the available pedigree data and the association with the McLeod phenotype suggest that there may be a locus for this disorder on the short arm of the X chromosome.
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PMID:Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. 199 79

Participants in the Affective Disorders component of Genetic Analysis Workshop 5 had access to five distributed data sets: 1) 187 families from the Collaborative Depression Study, 2) 202 families ascertained as part of the NIMH Family Studies on Affective Disorders, 3) a compilation of 46 pedigrees informative for X-linked markers, 4) HLA typing on 116 kindreds from the Toronto-Rochester Depression Study, and 5) 81 members of an Old Order Amish pedigree demonstrating linkage to markers on chromosome 11p. These databases are each summarized after a brief account is given of the genetics of the affective disorders and commonly used diagnoses. The emphasis of the Workshop was methodologic, with contributions divided evenly between linkage and nonlinkage applications. Contributions are summarized under four substantive areas: regressive logistic models, segregation and other familial analyses, methodologic considerations in linkage analysis, and the relationship between HLA and affective disorders.
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PMID:Genetic analysis of the affective disorders: summary of GAW5. 265 28

Manic depression is a severe cyclic mental illness that can be unipolar or bipolar and has a lifetime risk of approximately 7 per 1,000 in most populations. Families with multiple cases of manic depression have been described that are compatible with both autosomal dominant and X-linked modes of genetic transmission. Psychoactive antidepressant and stimulant drugs that help to ameliorate depression and mania are thought to act by affecting catecholamine neurotransmitter systems such as adrenaline, noradrenaline and dopamine, amongst others. Mutations affecting the tyrosine hydroxylase (TH) gene, which encodes the rate-limiting enzyme for the synthesis of these three neurotransmitters, might therefore be responsible for causing the manic depressive phenotype. We have studied three Icelandic kindreds amongst whom it appears that a single autosomal dominant disease allele is segregating. In these families there were 44 cases amongst 73 individuals at risk. Genetic linkage studies were carried out using clones encoding tyrosine hydroxylase the variable portion of the Harvey-ras-1 (HRAS1) locus and the variable region of the insulin gene (INS). All three markers are closely linked on chromosome 11 and were used to observe the segregation of restriction fragment length polymorphisms (RFLPs) in the three affected kindreds. We found no evidence for linkage to these markers in any of the three families. In contrast, Gerhard et al. found linkage between manic depression and HRAS1 in a single large Amish kindred. We conclude that there is genetic heterogeneity of linkage in manic depression. Therefore mutations at different loci are responsible for the manic depressive phenotype in the Amish and in Iceland.
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PMID:Molecular genetic evidence for heterogeneity in manic depression. 288 Dec 10

Recent research has shown that there are X-linked and possibly chromosome 11-linked forms of manic depression as well as at least one other autosomal form. Segregation analyses of large affected families and the finding of genetic linkage between chromosome specific markers and manic depression mutations provide strong evidence that bipolar as well as unipolar forms of manic depression (MD) within the same family are inherited as a dominant gene disorder. This clarification of the etiology of certain types of depression should bring changed attitudes within psychiatry and may serve to stimulate discussion of the role of evolutionary mechanisms. From a clinical point of view, it has now become possible to determine whether clinical (phenotypic) variation reflects the underlying genotypic heterogeneity of linkage. A preliminary analysis of data from four recent studies shows that there is no clear correlation between such clinical features as the ratio of unipolar to bipolar cases and the genotypic form of manic depression. Further recombinant DNA research, proven to be successful in other genetic diseases, can soon be applied to manic depression. The specific problems posed by manic depression for these techniques are discussed.
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PMID:Molecular genetics and heterogeneity in manic depression. 307 14

Out of fifteen carriers of X-linked chronic granulomatous disease five had discoid lupus erythematosus-like skin lesions together with recurrent aphthous-like stomatitis, another five had only recurrent aphthous-like stomatitis, and the remainder were symptom-free. In individual carriers monocytes and neutrophils were equally reduced in their capacity for superoxide production, [1-14C]glucose oxidation and antibody-dependent cytotoxicity; but within he group of carriers a broad spectrum of depression was found. The degree of depression was closely related to the manifestations of clinical disease. It is suggested that the defective oxygen-dependent metabolism might play an aetiological role in the development of inflammatory diseases in carriers of chronic granulomatous disease. Two out of 10 unselected females with discoid lupus erythematosus were shown to be carriers of X-linked chronic granulomatous disease. Screening for this carrier state might therefore be of importance in these patients.
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PMID:Relation of monocyte and neutrophil oxidative metabolism to skin and oral lesions in carriers of chronic granulomatous disease. 727 85

We report on a Spanish family with cooccurrence of manic-depression and a form of hereditary cerebellar ataxia. All affected individuals in the second generation showed cerebellar ataxia and manic-depression simultaneously. Since anticipation has been described in both disorders and the pattern of segregation may be autosomal as well as X-linked, we have searched for a possible involvement of two candidate genes which are located either on an autosome (SCA1) or on the X-chromosome (GABRA3). We concluded that expansion of trinucleotide repeats at SCA1 gene cannot be considered as a disease-causing mutation, and this gene should be initially discarded.
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PMID:Familial cosegregation of manic-depressive illness and a form of hereditary cerebellar ataxia. 757 72


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