Publications by authors named "A Squassina"
Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.
View Article and Find Full Text PDFSchizophrenia (SCZ), bipolar (BD) and major depression disorder (MDD) are severe psychiatric disorders that are challenging to treat, often leading to treatment resistance (TR). It is crucial to develop effective methods to identify and treat patients at risk of TR at an early stage in a personalized manner, considering their biological basis, their clinical and psychosocial characteristics. Effective translation of theoretical knowledge into clinical practice is essential for achieving this goal.
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- A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
- The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
- While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
Article Synopsis
- Mitochondrial dysfunction has been noted in bipolar disorder (BD), but its impact on the disorder's origins and treatment response remains under-researched.* -
- A study comparing mitochondrial DNA copy number (mtDNA-cn) in 89 BD patients and 78 healthy controls found that BD patients had significantly higher mtDNA-cn levels, especially those treated with other mood stabilizers as opposed to lithium.* -
- The results indicate that while BD may be linked to mitochondrial issues, lithium treatment appears to lower mtDNA-cn levels, suggesting a potential restoration of mitochondrial function that doesn't necessarily correlate with how well patients respond to the medication.*
The role of genetic factors in cluster headache etiology, suggested by familial and twin studies, remains ill-defined, with the exact pathophysiological mechanisms still largely elusive. This systematic review aims to synthesize current knowledge on cluster headache genetics and explore its implications for personalized treatment and prediction of treatment response. Thus, we searched PubMed, Scopus, and the Cochrane Library databases and reference lists of identified research articles, meta-analyses, and reviews to identify relevant studies up to 10 July 2024.
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