Sex chromosome abnormalities and psychiatric diseases

zhang, Xinzhu; Yang, Jian; Li, Yuhong; Ma, Xin; Li, Rena

doi:10.18632/oncotarget.13962

Cited by 22 publications

(30 citation statements)

References 74 publications

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“…In most dominant X-linked syndromes, the penetrance and severity index of the phenotype are high in males, while the severity index is low in females (Ferri et al 2018). Genes on X or Y chromosomes not only determine the traits of men and women but also link to sex differences in some psychiatric diseases, including schizophrenia, ASD, attention deficit hyperactivity disorder, and mood disorders (Zhang et al 2017). Men are the only ones who inherit Y-chromosome-linked genes, but both men and women can inherit X-chromosome-linked genes (Zhang et al 2017).…”

Section: The Interaction Of Gut Microbiota and Genetics Affects The Dmentioning

confidence: 99%

“…Genes on X or Y chromosomes not only determine the traits of men and women but also link to sex differences in some psychiatric diseases, including schizophrenia, ASD, attention deficit hyperactivity disorder, and mood disorders (Zhang et al 2017). Men are the only ones who inherit Y-chromosome-linked genes, but both men and women can inherit X-chromosome-linked genes (Zhang et al 2017). X-chromosome inactivation is responsible for sex chromosome dosage compensation in females (XX) (Shvetsova et al 2019) that is the reason why males have worse symptoms than females.…”

Section: The Interaction Of Gut Microbiota and Genetics Affects The Dmentioning

confidence: 99%

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Gut microbiota on gender bias in autism spectrum disorder

Xia

Pan

Gao

et al. 2020

Reviews in the Neurosciences

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Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Its three core symptoms are social communication disorder, communication disorder, narrow interest and stereotyped repetitive behavior. The proportion of male and female autistic patients is 4:1. Many researchers have studied this phenomenon, but the mechanism is still unclear. This review mainly discusses the related mechanism from the perspective of gut microbiota and introduces the influence of gut microbiota on the difference of ASD between men and women, as well as how gut microbiota may affect the gender dimorphism of ASD through metabolite of microbiota, immunity, and genetics, which provide some useful information for those who are interested in this research and find more gender-specific treatment for autistic men and women.

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Section: The Interaction Of Gut Microbiota and Genetics Affects The Dmentioning

confidence: 99%

Section: The Interaction Of Gut Microbiota and Genetics Affects The Dmentioning

confidence: 99%

Gut microbiota on gender bias in autism spectrum disorder

Xia

Pan

Gao

et al. 2020

Reviews in the Neurosciences

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“…In particular, the importance of X-linked genes is their specific impacts on the development of the amygdala, which is associated with SCZ [10,11]. Therefore, X chromosome abnormality may be a new target for sex-specific risk of schizophrenia [4].…”

Section: Introductionmentioning

confidence: 99%

“…Whether the X chromosome plays any role in the sex-specific differences in SCZ is unknown. Many genes associated with psychiatric diseases, including SCZ, are located on the X chromosome [ 4 – 6 ]. These genes are proven participants in the basic differentiation process of neurons, encoding proteins involved in synaptic transmission [ 7 – 9 ].…”

Section: Introductionmentioning

confidence: 99%

A new sex-specific underlying mechanism for female schizophrenia: accelerated skewed X chromosome inactivation

Zhang

et al. 2020

Biol Sex Differ

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Background: X chromosome inactivation (XCI) is the mechanism by which the X-linked gene dosage is adjusted between the sexes. Evidence shows that many sex-specific diseases have their basis in X chromosome biology. While female schizophrenia patients often have a delayed age of disease onset and clinical phenotypes that are different from those of males, it is unknown whether the sex differences in schizophrenia are associated with Xlinked gene dosage and the choice of X chromosome silencing in female cells. Previous studies demonstrated that sex chromosome aneuploidies may be related to the pathogeneses of some psychiatric diseases. Here, we examined the changes in skewed XCI in patients with schizophrenia. Methods: A total of 109 female schizophrenia (SCZ) patients and 80 age-and sex-matched healthy controls (CNTLs) were included in this study. We evaluated clinical features including disease onset age, disease duration, clinical symptoms by the Positive and Negative Syndrome Scale (PANSS) and antipsychotic treatment dosages. The XCI skewing patterns were analyzed by the methylation profile of the HUMARA gene found in DNA isolated from SCZ patient and CNTL leukocytes in the three age groups. Results: First, we found that the frequency of skewed XCI in SCZ patients was 4 times more than that in the ageand sex-matched CNTLs (p < 0.01). Second, we found an earlier onset of severe XCI skewing in the SCZ patients than in CNTLs. Third, we demonstrated a close relationship between the severity of skewed XCI and schizophrenic symptoms (PANSS score ≥ 90) as well as the age of disease onset. Fourth, we demonstrated that the skewed XCI in SCZ patients was not transmitted from the patients' mothers. Limitations: The XCI skewing pattern might differ depending on tissues or organs. Although this is the first study to explore skewed XCI in SCZ, in the future, samples from different tissues or cells in SCZ patients might be important for understanding the impact of skewed XCI in this disease. Conclusion: Our study, for the first time, investigated skewed XCI in female SCZ patients and presented a potential mechanism for the sex differences in SCZ. Our data also suggested that XCI might be a potential target for the development of female-specific interventions for SCZ.

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“…4,5 Previous research suggests that bipolar disorder, schizophrenia, and other psychiatric disorders might be overrepresented in patients with KS. 6 Over-dosage of X-linked escapee genes due to an extra X chromosome was suggested to contribute to the development of psychiatric symptoms in KS. 7 The aim, in this case, is to report a patient with KS at an advanced age having bipolar disorder.…”

Section: Introductionmentioning

confidence: 99%

An Older Klinefelter's Syndrome Case with Bipolar Mood Disorder Living in Rural Area in Turkey

Demirci

Arif

Topak

et al. 2018

Turkish Journal of Family Medicine and Primary Care

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Aim: The aim, in this case, is to report a patient with Klinefelter's Syndrome, living in a rural area, at an advanced age having bipolar disorder. Both of the diseases are usually supposed to be diagnosed earlier. Methods: The patient was evaluated when he visited the family physician in the rural area for follow-up of diabetes mellitus and psychotic disorder within the scope of mobile family medicine services. During the visit, abnormal body structure of the patient attracted notice and the patient further evaluated. Results: Psychometric tests: Young mania rating scale result was found to be 1/60 and the Hamilton depression rating scale result was found to be 27. Measurements: The body measurements of the patient were found to be as follows: height: 197 cm, weight: 129 kg, Body Mass Index: 33.3 kg/m 2 , arm span: 197 cm, pubis-to-floor: 107 cm, head-to-pubis: 90 cm, head circumference: 56.5 cm, waist circumference: 130 cm, hip circumference: 110 cm. Laboratory: The patient was diagnosed with pure KS by chromosome analysis of the peripheral blood. Ultrasonography: Scrotal doppler ultrasound examination revealed that the size of the right testicle was 20x8.5x12.5 mm (1.1 ml) and the size of the right testicle was 18x8x11 mm (0.8 ml) and both testicles were visualized to be hypoplastic. Conclusion: The chromosomal anomaly of the patient was diagnosed by a family doctor, who is also a part-time family medicine residency trainee, when the abnormal body structure, bipolar mood disorder, diabetes mellitus and infertility histories were associated. This case is a good example of the holistic approach. Rural medicine that is carried out in the form of mobile family practice in Turkey provided a significant contribution to the diagnosis of Klinefelter's Syndrome in the patient.

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Sex chromosome abnormalities and psychiatric diseases

Cited by 22 publications

References 74 publications

Gut microbiota on gender bias in autism spectrum disorder

Gut microbiota on gender bias in autism spectrum disorder

A new sex-specific underlying mechanism for female schizophrenia: accelerated skewed X chromosome inactivation

An Older Klinefelter's Syndrome Case with Bipolar Mood Disorder Living in Rural Area in Turkey

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