Genetic variations in the ADAMTS12 gene are associated with schizophrenia in Puerto Rican patients of Spanish descent.

ADAMTS12 belongs to the family of metalloproteinases that mediate a communication between specific cell types and play a key role in the regulation of normal tissue development, remodeling, and degradation. Members of this family have been implicated in neurodegenerative and neuroinflammatory, as well as in muscular-skeletal, cardiovascular, respiratory and renal diseases, and cancer. Several metalloproteinases have been associated with schizophrenia.

Heritability of cognitive functions in families of successful cognitive aging probands from the Central Valley of Costa Rica.

We sought to identify cognitive phenotypes for family/genetic studies of successful cognitive aging (SCA; maintaining intact cognitive functioning while living to late old age). We administered a battery of neuropsychological tests to nondemented nonagenarians (n = 65; mean age = 93.4 ± 3.

Homocysteine and cognitive function in very elderly nondemented subjects.

Objectives: To examine the association of homocysteine with cognitive functioning in very elderly community-dwelling individuals (80 years or older).

Methods: Two hundred twenty-eight nondemented community-dwelling individuals were assessed with a broad neuropsychological battery. Bloods were drawn to measure homocysteine, serum vitamin B12, and folate levels and APOE genotype.

Non-synonymous variants in the AMACR gene are associated with schizophrenia.

Background: The AMACR gene is located in the schizophrenia susceptibility locus on chromosome 5p13, previously identified in a large Puerto Rican pedigree of Spanish origin. The AMACR-encoded protein is an enzyme involved in the metabolism of branched-chain fatty and bile acids. The enzyme deficiency causes structural and functional brain changes, and disturbances in fatty acid and oxidative phosphorylation pathways observed in individuals with schizophrenia.

Mutation analysis of the C1QTNF3 gene in patients with schizophrenia.

We previously identified a small region on chromosome 5p13 related to schizophrenia in a Puerto Rican pedigree. We screened one of the positional candidate genes, C1QTNF3, for mutations in affected family members. The direct sequencing identified 10 sequence variants, including five shared by all affected family members.

Impact of APOE epsilon4 on the cognitive performance of a sample of non-demented Puerto Rican nonagenarians.

APOE epsilon4 is a major risk factor for Alzheimer's disease. It has also been associated with cognitive impairment and cognitive decline in young-olds, but the impact of the epsilon4 allele on cognitive function in very late life is still unclear. The object of this study was to evaluate the association of the epsilon4 allele of APOE with the cognitive performance of a sample of non-demented oldest-olds.

Better memory functioning associated with higher total and low-density lipoprotein cholesterol levels in very elderly subjects without the apolipoprotein e4 allele.

Objective: To examine the association of cholesterol with cognitive functioning in oldest old community dwelling individuals with and without the apolipoprotein e4 (APOE4) allele.

Method: One hundred eighty-five nondemented, community dwelling individuals (>or=85) were assessed with a broad neuropsychological battery. Bloods were drawn to assess total, low-density lipoprotein (LDL), and high-density lipoprotein cholesterol, as well as for APOE genotyping.

Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism.

Evidence for a genetic association between autism and two single nucleotide polymorphisms (SNPs), rs2056202 and rs2292813, in the mitochondrial aspartate/glutamate carrier (SLC25A12) gene led us to ask whether any of the four previously identified familial traits in autism spectrum disorders (ASD) varied by these SNPs. In 355 ASD cases from 170 sibships we examined levels of the four traits in these SNPs using ANCOVA models. The primary models selected unrelated affected cases and used age and sex as covariates.

Fine mapping of the 5p13 locus linked to schizophrenia and schizotypal personality disorder in a Puerto Rican family.

A locus involved in schizophrenia and related disorders in a Puerto Rican family has previously been mapped to chromosome 5p. The maximum two-point log of the odds (LOD) score of 3.72 was obtained for marker D5S111, and increased to 4.