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Increased poly glutamine (polyQ) stretch at N-terminal of Huntingtin (HTT) causes Huntington's disease. HTT interacts with large number of proteins, although the preference for such interactions with wild type or mutated HTT protein remains largely unknown. HYPK, an intrinsically unstructured protein chaperone and interactor of mutant HTT was found to interact with myeloid leukemia factor 1 (MLF1) and 2 (MLF2). To identify the role of these two proteins in mutant HTT mediated aggregate formation and toxicity in a cell model, both the proteins were found to preferentially interact with the mutated N-terminal HTT. They significantly reduced the number of cells containing mutant HTT aggregates and subsequent apoptosis in Neuro2A cells. Additionally, in FRAP assay, mobile fraction of mutant HTT aggregates was increased in the presence of MLF1 or MLF2. Further, MLF1 could release transcription factors like p53, CBP and CREB from mutant HTT aggregates. Moreover, in HeLa cell co-expressing mutant HTT exon1 and full length MLF1, p53 was released from the aggregates, leading to the recovery of the expression of the GADD45A transcript, a p53 regulated gene. Taking together, these results showed that MLF1 and MLF2 modulated the formation of aggregates and induction of apoptosis as well as the expressions of genes indirectly.
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http://dx.doi.org/10.1016/j.biocel.2016.11.008 | DOI Listing |
Neurogenetics
September 2025
Nur International University, 54600, Lahore, Punjab, Pakistan.
Huntington's disease (HD) is a progressive, autosomal dominant neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and psychiatric disturbances. It is caused by CAG repeat expansions in the HTT gene, resulting in the formation of mutant huntingtin protein that aggregates and disrupts neuronal function. This review outlines the pathogenesis of HD, including genetic, molecular, and environmental factors.
View Article and Find Full Text PDFNeurodegener Dis Manag
August 2025
Centre for Interdisciplinary Research in Basic Sciences, Jamia Millia Islamia, New Delhi, India.
Huntington's disease (HD) is an autosomal, progressive, dominant inherited neurological disorder characterized by motor dysfunction, cognitive decline, and psychiatric symptoms. HD is caused by abnormal expansion of trinucleotide CAG in exon1 of the gene and the accumulation of mutant huntingtin (mHTT) fragments, which leads to neurotoxicity mainly in the brain's cortex region. This review aimed to collect current research on developing effective treatment strategies, including small-molecule approaches, gene therapies, and protein degradation techniques to reduce the mHTT levels.
View Article and Find Full Text PDFActa Neuropathol Commun
August 2025
NeuroGenCell, Inserm U 1127, CNRS UMR 7225, ICM, Institut du Cerveau, Sorbonne Université, Paris, France.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by an abnormal expansion of cytosine-adenine-guanosine (CAG) trinucleotidein the huntingtin gene. Mutant huntingtin (mHTT) expression in neurons and glial cells affects neuron and astrocyte functions and leads to the loss of medium spiny neurons of the striatum. Brain cholesterol pathway is severely affected by HTT mutation in neurons and astrocytes, contributing to HD pathogenesis.
View Article and Find Full Text PDFAutophagy
August 2025
State Key Laboratory of Bioactive Molecules and Druggability Assessment, Guangdong Key Laboratory of Non-human Primate Research, Ministry of Education Key Laboratory of CNS Regeneration, Guangdong-Hongkong-Macau Institute of CNS Regeneration, Jinan University, Guangzhou, China.
Accumulation of misfolded proteins leads to many neurodegenerative diseases that can be treated by lowering or removing mutant proteins. Huntington disease (HD) is characterized by the accumulation of ubiquitinated mutant HTT (huntingtin) in the central nervous system. Ubiquitination of the misfolded proteins, a common feature of the neurodegenerative diseases, is mediated by the different lysine residues on ubiquitin.
View Article and Find Full Text PDFExp Neurol
August 2025
Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510120, China. Electronic address:
Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder characterized by progressive motor deficits, cognitive decline, and psychiatric disturbances caused by expanded CAG repeats in the huntingtin gene (HTT). Despite the development of various animal models, achieving a comprehensive model that closely replicates the biological mechanisms in order to test therapeutic modalities remains a challenge. Here, we describe a novel human HTT exon 1 knock-in (HEKI-150Q) mouse model that incorporates a 3.
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