Table 3 Aggregate expression and peripheral dysfunctions

Digestive tract

Weight loss

Loss of neurons producing ghrelin (Podolsky et al.¹⁴⁵)

Patchy distribution of aggregates in the gastric tract (Moffitt et al.¹⁴⁶)

Epithelial cells (Garewal et al.¹⁴⁷)

Muscle

Muscular atrophy (Turner et al.⁸⁵)

Uniform muscular atrophy, but no apparent symptoms usually associated with muscular pathology (Ribchester et al.¹⁴⁸)

Myoblasts isolated from HD patients show mitochondrial dysfunction and increased susceptibility to apoptosis (Ciammola et al.¹⁴⁹)

Endocrine system

Impairment of insulin secretion

Atrophic cells and nuclear

inclusions (Smith et al.⁹⁴)

Aggregates in β-cells (Moffitt et al.¹⁴⁶)

Insulinoma cell line (INS-1E)

(Boesgaard et al.¹⁵⁰)

Testes

Decrease in testicular atrophy in germ cells (spermatocytes and spermatids)

High mHtt expression levels (Van Raamsdonk et al.¹⁵¹)

Loss of testicular weight after 9 months in YAC128 mice Atrophy in 4-week-old R6/2 mice (Van Raamsdonk et al.¹⁵²)

NA

Blood

Abnormal immune response

Increased production of IL-4, IL-5, IL-6, IL-8, IL-10 and TNF-α (Björkqvist et al.¹¹³)

Increased susceptibility to apoptosis and mitochondrial abnormalities in blood cells (Almeida et al.¹⁵³)

Monocytes and macrophages from the R6/2 mice challenged with LPS show a stronger immune response (Björkqvist et al.¹¹³)

HD patient lymphoblast cell lines (Cannella et al.³⁷)

Heart

Heart failure

Altered autonomic innervation; arrhythmia; development of coronary heart disease (Sassone et al.²²)

Heart failure caused by accumulation of pre-amyloid oligomer; infiltration of inflammatory cells before disease development (Pattison et al.¹⁵⁴)

Cardiac atrophy starting at 6 weeks of age (Sathasivam et al.¹⁵⁵)

Mitochondrial dysfunction and oxidative stress (Mihm et al.¹⁵⁶)

Cardiomiocytes from pluripotent stem cells (Yoshida et al.¹⁵⁷)

Primary culture from neonatal mice (Sreejit et al.¹⁵⁸)