A Little Light for Huntington’s

“ Many describe the symptoms of HD as having ALS, Parkinson’s and Alzheimer’s – simultaneously.” – The Huntington’s Disease Society of America States

For almost 50 years research into the cause and a cure for Huntington’s Disease has been under way. Folk singer Woody Guthrie, of “This Land is Your Land” fame, died of complications of Huntington’s in 1967. He was only 55. Subsequently, his two oldest daughters died of HD both at age 41. While usually symptoms do not occur until middle age, they seem to begin progressively earlier in each generation, and for reasons as yet not understood seem particularly strong if inherited paternally.

The beginning of research efforts stemmed from an ad Guthrie’s widow Marjorie, put in the newspaper to gather other families affected by Huntington’s together, for research, and support. Ultimately from this led to the formation of the Huntington’s Disease Society of America. 

There is currently no treatment to stop or reverse the progress of HD, but as understanding of HD continues, a number of potential paths to a cure have emerged that will likely benefit not only HD, but other neurological disease such as Alzheimers and  Parkinson’s.

animal-1238238_1920Recently researchers at Children’s Hospital of Philadelphia and the University of California at Irving, working with mice with HD, discovered that if they lowered the levels of a protein called PIS1, this led to a reduction in a mutant Huntington protein. HD mice with this lowered protein showed decreased neuro inflammation and their HD symptoms were improved.

A recent article published in the Journal NEURON stated that reducing this protein“significantly improved behavioral phenotypes in rapidly progressing mutant HTT “.

Huntington’s is a disease that steals your mind. It affects cognitive, psychiatric and motor skills. It runs in families with every child having a 50/50 chance of inheriting a mutated allele. The incidence of Huntington’s is about 5 to 7 individuals out of 100,000 in most of the US and western Europe, but it varies throughout the world, with very little HD in Asian populations and approximately 700 out of 100,000 in the Maracaibo Lake region of Venezuela being affected.

A study of over 18,000 individuals over 10 generations in this region revealed that the age of onset probably has both environmental as well as genetic determinants. For the age of onset is variable even with an identical number of repeats in the mutated allele. However, when the repeats are so many that HD appears in childhood, transmission to the next generation ceases as individuals generally succumb to HD prior to the age of reproduction.

Before 1993, there was no way for a child of someone with HD to know whether he/she had or had not inherited the mutated allele. They could only watch and wait for symptoms to develop between the ages of 30-50, and even then due to the very nature of the disease, they often had to rely on their family to tell them that they were beginning to show signs of HD.

Now, individuals can have genetic testing, if they choose to do so to determine if they will develop HD and if they could pass on the mutation to their offspring. The decision to test in the absence of any effective treatment is difficult for many, and the HD Society and genetic counselors can be very helpful and supportive in this process.

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