Peripheral Biomarkers in Manifest and Premanifest Huntington's Disease

被引：7
|
作者：
Morena, Emanuele [1 ]
Romano, Carmela [2 ]
Marconi, Martina [1 ]
Diamant, Selene [1 ]
Buscarinu, Maria Chiara [1 ]
Bellucci, Gianmarco [1 ]
Romano, Silvia [1 ]
Scarabino, Daniela [3 ]
Salvetti, Marco [1 ,4 ]
Ristori, Giovanni [1 ,5 ]
机构：
[1] Sapienza Univ Rome, St Andrea Hosp, Dept Neurosci Mental Hlth & Sensory Organs NESMOS, I-00189 Rome, Italy
[2] Sapienza Univ Rome, St Andrea Hosp, Dept Human Neurosci, I-00189 Rome, Italy
[3] CNR, Inst Mol Biol & Pathol, I-00185 Rome, Italy
[4] IRCCS Ist Neurol Mediterraneo INM Neuromed, I-86077 Pozzilli, Italy
[5] IRCCS Fdn St Lucia, Neuroimmunol Unit, I-00179 Rome, Italy
来源：
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2023年 / 24卷 / 07期
关键词：
Huntington's disease; peripheral biomarker; plasma; blood; biomarker; premanifest; manifest; gene therapy; mHTT; neurofilament light chain; DNA damage response; leukocyte telomere length; PLASMA NEUROFILAMENT LIGHT; MUTANT HUNTINGTIN; CEREBROSPINAL-FLUID; TELOMERE LENGTH; DNA-REPAIR; MICRORNAS; PROTEIN; TAU; PATHOGENESIS; BIOGENESIS;
D O I：
10.3390/ijms24076051
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Huntington's disease (HD) is characterized by clinical motor impairment (e.g., involuntary movements, poor coordination, parkinsonism), cognitive deficits, and psychiatric symptoms. An inhered expansion of the CAG triplet in the huntingtin gene causing a pathogenic gain-of-function of the mutant huntingtin (mHTT) protein has been identified. In this review, we focus on known biomarkers (e.g., mHTT, neurofilament light chains) and on new biofluid biomarkers that can be quantified in plasma or peripheral blood mononuclear cells from mHTT carriers. Circulating biomarkers may fill current unmet needs in HD management: better stratification of patients amenable to etiologic treatment; the initiation of preventive treatment in premanifest HD; and the identification of peripheral pathogenic central nervous system cascades.
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收藏
页数：12
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