The current state of research with peripheral tissues in Huntington disease

Beverstock, Geoffrey C.

doi:10.1007/bf00286586

Cited by 18 publications

(7 citation statements)

References 170 publications

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“…In addition to protein misfolding, mitochondrial defects, and oxidative stress, cell death is one of the major events reported in neuronal and peripheral pathologies associated with mutant huntingtin in HD [6, 8, 30, 46, 81–86]. A recent study reported the association between mutant HTT and cell death pathways, particularly evident in cardiac tissue [34].…”

Section: Huntington’s Disease-induced Cardiac Disease and Cell Deathmentioning

confidence: 99%

Huntington’s Disease-Induced Cardiac Disorders Affect Multiple Cellular Pathways

Melkani

2016

ROS

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Huntington’s disease (HD) is a rare, inherited, progressive, and fatal neurological disorder resulting from expanded polyglutamine repeats in the huntingtin protein. While HD is predominately characterized as a disease of the central nervous system, mortality surveys and epidemiological studies reveal heart disease as one of the leading causes of death in HD patients. Emerging evidence supports a link between HD and cardiovascular disease, such as cardiac amyloidosis (accumulation of aggregates in the heart). Experimental animal and clinical studies have attempted to explain the mechanisms of HD-induced cardiac pathology in the association of protein misfolding, autophagic defects, oxidative stress, mitochondrial dysfunction, and cell death. HD is increasingly understood as a complex disease with peripheral components of cardiac and skeletal muscle pathophysiology. While the discovery of these linkages and apparent pathological markers is promising, the mechanism of HD-induced cardiac pathology and the nature of its cell autonomy remain elusive. Further study of the wide-ranging cardiac function in HD patients is needed. This review highlights published literature on the pathological factors associated with HD-induced cardiac amyloidosis and other cardiovascular diseases, and addresses gaps in this expanding area of study. Through comprehensive experimental and clinical studies, potential drugs can be tested to attenuate and/or ameliorate HD-induced cardiac pathology and mortality.

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Section: Huntington’s Disease-induced Cardiac Disease and Cell Deathmentioning

confidence: 99%

Huntington’s Disease-Induced Cardiac Disorders Affect Multiple Cellular Pathways

Melkani

2016

ROS

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“…Meanwhile, the differences between HD patients and controls which have been ob served with other methods have also been the subject of contradictory reports [3], which lends support to our contention that the ad mittedly attractive theory of a generalized membrane defect must be reconsidered. For early diagnosis of HD ESR is entirely use less.…”

Section: Discussionmentioning

confidence: 80%

“…The investigations carried out to date have produced contradictory results in different laboratories [3).…”

Section: Discussionmentioning

confidence: 99%

Spin Label Study of Red Blood Cell Membranes in Huntington’s Disease

Kraus¹,

Vigenschow²,

Przuntek³

1986

Eur Neurol

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Huntington’s disease (HD) is an inherited degenerative disorder of the central nervous system. Various studies of peripheral tissues from HD patients have led to the assumption that this disease could be the expression of a generalized membrane defect. We have been unable to reproduce fundamental results on which this theory is based, namely differences between electron spin resonance spectra for erythrocytes from diseased and healthy persons. Contradictory results have been published for other methods as well so that it is necessary to rethink the membrane defect theory.

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“…It has been reported that patients with HD exhibit peripheral immune changes, including circulating and tissue-based immune cells [ 12 ]. In R6/2 mice, activated T cells can be identified by the expression of cell surface markers, such as OX40, CD40L and CD25 [ 56 ].…”

Section: Spleen As Immune Tissuementioning

confidence: 99%

“…Apart from the neuronal impairment of HD, some studies have described pathological phenotypes in the peripheral tissues of HD patients, including altered glucose homeostasis [ 8 ] and weight loss [ 9 ]. Other studies have analyzed the particular changes in blood cells such as erythrocytes [ 10 ] and lymphocytes [ 11 ], as well as in fibroblasts [ 12 ], immune blood cells [ 13 , 14 ], the pancreas [ 15 ], the heart [ 16 , 17 ], the retina [ 18 ], the liver [ 19 ], the kidney [ 20 ], pericytes and the blood–brain barrier [ 21 ] from HD patients. The models can aid understanding of how HTT affects peripheral tissues and contributes to disease progression.…”

Section: Introductionmentioning

confidence: 99%

A New Perspective on Huntington’s Disease: How a Neurological Disorder Influences the Peripheral Tissues

Gómez-Jaramillo

Cano-Cano

González-Montelongo

et al. 2022

IJMS

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Huntington’s disease (HD) is a neurodegenerative disorder caused by a toxic, aggregation-prone expansion of CAG repeats in the HTT gene with an age-dependent progression that leads to behavioral, cognitive and motor symptoms. Principally affecting the frontal cortex and the striatum, mHTT disrupts many cellular functions. In fact, increasing evidence shows that peripheral tissues are affected by neurodegenerative diseases. It establishes an active crosstalk between peripheral tissues and the brain in different neurodegenerative diseases. This review focuses on the current knowledge of peripheral tissue effects in HD animal and cell experimental models and identifies biomarkers and mechanisms involved or affected in the progression of the disease as new therapeutic or early diagnostic options. The particular changes in serum/plasma, blood cells such as lymphocytes, immune blood cells, the pancreas, the heart, the retina, the liver, the kidney and pericytes as a part of the blood–brain barrier are described. It is important to note that several changes in different mouse models of HD present differences between them and between the different ages analyzed. The understanding of the impact of peripheral organ inflammation in HD may open new avenues for the development of novel therapeutic targets.

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The current state of research with peripheral tissues in Huntington disease

Cited by 18 publications

References 170 publications

Huntington’s Disease-Induced Cardiac Disorders Affect Multiple Cellular Pathways

Huntington’s Disease-Induced Cardiac Disorders Affect Multiple Cellular Pathways

Spin Label Study of Red Blood Cell Membranes in Huntington’s Disease

A New Perspective on Huntington’s Disease: How a Neurological Disorder Influences the Peripheral Tissues

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