The defective gene codes the blueprint for a protein called huntingtin. The disease is named for George Huntington, the physician who first described it in the late 1800s.
The disease is characterized by progressive dysfunction and loss of neurons in certain anatomical regions with a variety of clinical presentations. Environmental factors such as Mn exposure may be involved in the etiology and progression of the disease.
Manganese has only been recently implicated in Huntington’s disease, and studies have suggested that a manganese deficiency may underlie some of Huntington’s disease pathology. Manganese is an essential trace element that is required for several physiological process and it has an important function as cofactor of numerous enzymes required for glial and neuronal cells.
Study by Rosas and team in 2012 (published in Arch. Neurol., 2012, 69, 887–893), found a significant decrease in manganese concentration in parts of Huntington’s Disease cortex.
Manganese is known to accumulate in the globus pallidus and caudate nucleus, two areas highly susceptible to Huntington’s Disease neurodegeneration. (J. Neurol. Sci., 1979, 42, 407–416) (Physiol. Rev., 1987, 67, 858–901)
This accumulation may highlight a specific necessity of manganese for proper function, and may also make these brain areas more susceptible to fluctuations in manganese levels.
The hallmark symptom of Huntington’s disease is uncontrolled movement of the arms, legs, head, face and upper body. Huntington’s also causes a decline in thinking and reasoning skills, including memory, concentration, judgment and ability to plan and organize.
Manganese and Huntington’s Disease
