In March 1993 the gene IT 15 was identified on chromosome 4p and it was demonstrated that it contained an unstable (CAG)n trinucleotide repeat that is elongated in patients with Huntington's chorea (HC). Persons with more than 37 (CAG)n repeats tend to have a higher risk of developing the disease. Testing the (CAG)n repeats in Austrian HC patients with PCR techniques shows correspondence between the clinical diagnosis of HC and genotypes [more than 42 (CAG)n repeats]. There was a weak correlation between the number of (CAG)n repeats and age of onset, however, this finding is without diagnostic value due to the scatter of the values.
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Cell
January 2025
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02215, USA; Howard Hughes Medical Institute, Boston, MA 02215, USA. Electronic address:
In Huntington's disease (HD), striatal projection neurons (SPNs) degenerate during midlife; the core biological question involves how the disease-causing DNA repeat (CAG) in the huntingtin (HTT) gene leads to neurodegeneration after decades of biological latency. We developed a single-cell method for measuring this repeat's length alongside genome-wide RNA expression. We found that the HTT CAG repeat expands somatically from 40-45 to 100-500+ CAGs in SPNs.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Research Centre for Medical Genetics, 115522 Moscow, Russia.
The androgen receptor (AR) is critical for mediating the effects of androgens. The polymorphic CAG locus in exon 1 of the gene is associated with several diseases, including spinal and bulbar muscular atrophy (SBMA), prostate cancer, and male infertility. This study evaluated the CAG locus in 9000 infertile Russian men and 286 fertile men (control group).
View Article and Find Full Text PDFPeerJ
October 2024
Department of Zoology, Charles University Prague, Praha 2, Czech Republic.
Zoraptera (also called "angel insects") is one of the most unexplored insect orders. However, it holds promise for understanding the evolution of insect karyotypes and genome organization given its status as an early branching group of Polyneoptera and Pterygota (winged insects) during the Paleozoic. Here, we provide karyotype descriptions of three Zorapteran species: (2n♂; ♀ = 42; 42), (2n♂; ♀ = 43; 44) and (2n♂; ♀ = 36; 36).
View Article and Find Full Text PDFEarly Hum Dev
November 2024
University of West Florida, United States of America.
J Med Case Rep
September 2024
The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.
Background: Dentatorubral-pallidoluysian atrophy is a rare autosomal dominant neurodegenerative disease. It is a rare disease in the world. Therefore, sharing clinical encounters of this case can deepen global awareness and understanding of the disease.
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