The Huntington’s Disease Gene in an Italian Cohort of Patients with Bipolar Disorder

• Published in: Genes Vol. 14; no. 9; p. 1681
• Main Authors: Ferrari, Camilla, Capacci, Elena, Bagnoli, Silvia, Ingannato, Assunta, Sorbi, Sandro, Nacmias, Benedetta
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 25.08.2023; MDPI
• Subjects: Alleles; Bipolar disorder; Brief Report; cognition; Cognitive ability; Family medical history; Genes; Genetic counseling; Genetic testing; genotype; Genotypes; Health aspects; High-definition television; Huntingtin; Huntington's disease; Huntingtons disease; Hypotheses; Medical research; Medicine, Experimental; Mental depression; Mental disorders; Patients; Phenotypes; Polyglutamine; Population; Population genetics; Trinucleotide repeats; United States > US
• DOI: 10.3390/genes14091681
• ISSN: 2073-4425

Background and objectives: Huntington’s disease (HD) is characterized by motor, cognitive and psychiatric manifestations and caused by an expansion of CAG repeats over 35 triplets on the huntingtin (HTT) gene. However, expansions in the range 27–35 repeats (intermediate allele) can be associated with pathological phenotypes. The onset of HD is conventionally defined by the onset of motor symptoms, but psychiatric disturbances can precede the motor phase by up to twenty years. The aims of the present study are to identify HD patients in the pre-motor phase of the disease among patients diagnosed with bipolar disorders and evaluate any differences between bipolar patients carrying the normal HTT allele and patients with the expanded HTT gene. Methods: We assessed the HTT genotype in an Italian cohort of 69 patients who were affected by either type 1 or type 2 bipolar disorder. Results: No patient was found to be a carrier of the pathological HTT allele, but 10% of bipolar subjects carried an intermediate allele. Carriers of the intermediate allele were older at the onset of psychiatric symptoms than non-carriers. Conclusion: The pathological HTT gene was not associated with bipolar disorder, while we found a higher frequency of the intermediate allele among the bipolar population with respect to healthy controls. The identification of this subset of bipolar subjects has implications for the clinical management of patients and their family members and promotes further investigation into possible pathological mechanisms common to both HD and bipolar disorder.