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Y Chromosome, Mitochondrial DNA and Childhood Behavioural Traits.

ABSTRACT: Many psychiatric traits are sexually dimorphic in terms of prevalence, age of onset, progression and prognosis; sex chromosomes could play a role in these differences. In this study we evaluated the association between Y chromosome and mitochondrial DNA haplogroups with sexually-dimorphic behavioural and psychiatric traits. The study sample included 4,211 males and 4,009 females with mitochondrial DNA haplogroups and 4,788 males with Y chromosome haplogroups who are part of the Avon Longitudinal Study of Parents and Children (ALSPAC) based in the United Kingdom. Different subsets of these populations were assessed using measures of behavioural and psychiatric traits with logistic regression being used to measure the association between haplogroups and the traits. The majority of behavioural traits in our cohort differed between males and females; however Y chromosome and mitochondrial DNA haplogroups were not associated with any of the variables. These findings suggest that if there is common variation on the Y chromosome and mitochondrial DNA associated with behavioural and psychiatric trait variation, it has a small effect.

SUBMITTER: Howe LJ

PROVIDER: S-EPMC5599552 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

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Y Chromosome, Mitochondrial DNA and Childhood Behavioural Traits.

Howe Laurence J LJ Erzurumluoglu A Mesut AM Davey Smith George G Rodriguez Santiago S Stergiakouli Evie E

Scientific reports 20170914 1

Many psychiatric traits are sexually dimorphic in terms of prevalence, age of onset, progression and prognosis; sex chromosomes could play a role in these differences. In this study we evaluated the association between Y chromosome and mitochondrial DNA haplogroups with sexually-dimorphic behavioural and psychiatric traits. The study sample included 4,211 males and 4,009 females with mitochondrial DNA haplogroups and 4,788 males with Y chromosome haplogroups who are part of the Avon Longitudinal ...[more]

PMID: 28912458

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Project description:BackgroundBehavioural problems and psychopathology can present from as early as the preschool period. However there is evidence that behavioural difficulties may not be stable over this period. Therefore, the current study was interested in evaluating the persistence and change in clinically relevant behavioural problems during early childhood in a population-based New Zealand birth cohort.MethodsBehaviour was assessed in 5896 children when they were aged 2 and 4.5 years using the Strengths and Difficulties Questionnaire (SDQ). Correlations and mean differences in subscale and total difficulties scores were examined. Scores were then dichotomised into normal/borderline and abnormal ranges to evaluate the persistence and change in significant behavioural problems. Chi-square analyses and ANOVAs were used to determine the association between sociodemographic and birth variables, and preschool behavioural stability.ResultsRaw scores at ages 2 and 4.5 years were moderately correlated, with most measures showing a small but significant decrease in mean scores over time. The majority of children who showed abnormal behaviour at 2 years improved at 4.5 years (57.9% for total difficulties). However, a notable proportion persisted in their difficulties from 2 to 4.5 years (42.1% for total difficulties). There was a small percentage of children who were categorised as abnormal only at 4.5 years. Children with difficulties at one or both time points had a greater proportion who were the result of an unplanned pregnancy, lived in highly deprived urban areas, and had mothers who were younger, of Māori and Pacific ethnicity and were less educated.ConclusionsNot all children who show early behavioural difficulties persist in these difficulties. Those whose difficulties persist were more likely to experience risk factors for vulnerability relative to children with no difficulties. Results suggest that repeated screening for early childhood behavioural difficulties is important.

Project description:BACKGROUND: Mitochondrial encephalomyopathies are a heterogeneous group of clinical disorders generally caused due to mutations in either mitochondrial DNA (mtDNA) or nuclear genes encoding oxidative phosphorylation (OXPHOS). We analyzed the mtDNA sequences from a group of 23 pediatric patients with clinical and morphological features of mitochondrial encephalopathies and tried to establish a relationship of identified variants with the disease. METHODOLOGY/PRINCIPLE FINDINGS: Complete mitochondrial genomes were amplified by PCR and sequenced by automated DNA sequencing. Sequencing data was analyzed by SeqScape software and also confirmed by BLASTn program. Nucleotide sequences were compared with the revised Cambridge reference sequence (CRS) and sequences present in mitochondrial databases. The data obtained shows that a number of known and novel mtDNA variants were associated with the disease. Most of the non-synonymous variants were heteroplasmic (A4136G, A9194G and T11916A) suggesting their possibility of being pathogenic in nature. Some of the missense variants although homoplasmic were showing changes in highly conserved amino acids (T3394C, T3866C, and G9804A) and were previously identified with diseased conditions. Similarly, two other variants found in tRNA genes (G5783A and C8309T) could alter the secondary structure of Cys-tRNA and Lys-tRNA. Most of the variants occurred in single cases; however, a few occurred in more than one case (e.g. G5783A and A10149T). CONCLUSIONS AND SIGNIFICANCE: The mtDNA variants identified in this study could be the possible cause of mitochondrial encephalomyopathies with childhood onset in the patient group. Our study further strengthens the pathogenic score of known variants previously reported as provisionally pathogenic in mitochondrial diseases. The novel variants found in the present study can be potential candidates for further investigations to establish the relationship between their incidence and role in expressing the disease phenotype. This study will be useful in genetic diagnosis and counseling of mitochondrial diseases in India as well as worldwide.

Dataset Information

Y Chromosome, Mitochondrial DNA and Childhood Behavioural Traits.

Publications

Y Chromosome, Mitochondrial DNA and Childhood Behavioural Traits.

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