A novel arylsulfatase A protein variant and genotype in two patients with major depression

Ricketts, Michael H.; Amsterdam, Jay D.; Park, David; Yang, Rong; Poretz, R. D.; Zhang, Xiaoping; Fanale, Michelle A.; Baddoo, Andrew; Manowitz, Paul

doi:10.1016/0165-0327(96)00051-1

Cited by 11 publications

(4 citation statements)

References 35 publications

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“…The patient's older sister, in whom the diagnosis of MLD was confirmed biochemically, had had an episode of postpartum depression 4 years before. The literature describes some cases of adult MLD manifesting as major depression, but to our knowledge none of postpartum depression (Ricketts et al, 1996;Vella et al, 1998).…”

Section: Discussionmentioning

confidence: 99%

Childhood and Adolescent Schizophrenia and Other Early-Onset Psychoses

Kumperščak¹

2011

Psychiatric Disorders - Trends and Developments

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Section: Discussionmentioning

confidence: 99%

Childhood and Adolescent Schizophrenia and Other Early-Onset Psychoses

Kumperščak¹

2011

Psychiatric Disorders - Trends and Developments

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“…ASA has been studied in many different types of psychiatric patients, including schizophrenics, bipolar patients, demented patients, and neuropsychiatric patients [Shah et al, 1985; Propping et al, 1986; Herska et al, 1987; Cochrane et al, 1996; Ricketts et al, 1996b; Mihaljevic‐Peles et al, 2001]. There have been relatively few investigations of the relationship of ASA and alcoholism.…”

Section: Introductionmentioning

confidence: 99%

Evidence for an N‐glycosylation polymorphism of arylsulfatase a predisposing to alcoholism in Koreans

et al. 2002

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This study investigated the possible effect of the pseudodeficient N-glycosylation polymorphism of the arylsulfatase A (ASA) gene on alcohol dependence among Koreans. Alcoholic patients (N=123) were more likely than control subjects to be heterozygous or homozygous for the ASA pseudodeficient N-glycosylation site (36% of alcoholics versus 20% of controls; P<0.01). Among these 123 alcoholic patients, 42 alcoholics were heterozygous and two were homozygous for the ASA pseudodeficient N-glycosylation polymorphism. This result provides evidence that the ASA pseudodeficient N-glycosylation site allele increases the risk of alcohol dependence within a Korean population.

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“…4 had one heterozygous ARSA -MLD allele (c.465+ 1G>A) and two heterozygous ARSA -PD alleles (c.1055A>G and c.1178C>G) [ 16 ]. In addition, this case had the c.585G>T allele, which reduced ARSA activity similar to the ARSA -PD allele [ 17 ]. The presence of these alleles in case No.…”

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confidence: 99%

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy

et al. 2015

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Metachromatic leukodystrophy (MLD) is an autosomal recessive disease caused by a deficiency in arylsulfatase A (ARSA). However, decreased ARSA activity is also observed in pseudodeficiency (PD). To distinguish between MLD and PD, we performed gene mutation and sulfatide analyses by using dried blood spots (DBSs) from seven Korean individuals who underwent an analysis of ARSA activity. DNA was extracted from DBSs, and PCR-direct sequencing of ARSA was performed. The cDNA obtained was analyzed to confirm a novel mutation. Of the seven subjects, three were confirmed as having MLD, one was confirmed as having MLD-PD, one was confirmed as having PD, and the remaining two were obligate heterozygotes. We verified the novel pathogenic variant c.1107+1delG by performing familial and cDNA analyses. Sulfatide concentrations in DBSs were analyzed and were quantified by using ultra-performance liquid chromatography and tandem mass spectrometry, respectively. Total sulfatide concentration was inversely correlated with ARSA activity (Spearman's coefficient of rank correlation, P=0.929, P=0.0025). The results of this mutational and biochemical study on MLD will increase our understanding of the genetic characteristics of MLD in Koreans.

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A novel arylsulfatase A protein variant and genotype in two patients with major depression

Cited by 11 publications

References 35 publications

Childhood and Adolescent Schizophrenia and Other Early-Onset Psychoses

Childhood and Adolescent Schizophrenia and Other Early-Onset Psychoses

Evidence for an N‐glycosylation polymorphism of arylsulfatase a predisposing to alcoholism in Koreans

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy

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