Huntington’s Disease

Posted on Rheumatoid arthritis

Joint Resolution: A Link Between Huntington’s Disease and Rheumatoid Arthritis


 Using new analytic tools, researchers at University of California San Diego School of Medicine and the Icahn School of Medicine at Mount Sinai have decoded the epigenetic landscape for rheumatoid arthritis (RA), a common autoimmune disease that affects more than 1.3 million Americans. In unveiling RA’s epigenome — the proteins and molecules that decorate DNA and help turn genes on and off — scientists made a surprising discovery: an overlap between the causes of RA and Huntington’s disease, a fatal and incurable genetic brain disease.

The findings are published online in the May 15 issue of Nature Communications.

The research team, led by senior author Gary S. Firestein, MD, dean and associate vice chancellor of translational medicine at UC San Diego School of Medicine, said the unexpected connection between RA and Huntington’s disease opens up the possibility of new therapeutic targets and drugs for both conditions.  

“We did not expect to find an overlap between rheumatoid arthritis and Huntington’s disease, but discovering the unexpected was the reason that we developed this technology. Now that we have uncovered this connection, we hope that it opens a door for treatment options for people living with either disease,” said Firestein.

RA is a chronic inflammatory disorder that causes pain and swelling in joints. As an autoimmune disease, it can also affect other organs, including heart and blood vessels. Treatment for RA has improved, but 10 to 20 percent of patients do not respond to any available medicines.  

The investigative approach used by the research team involved developing a novel algorithm, or set of computational rules, called EpiSig, which integrated and reduced the number of epigenetic combinations in the genes of patients with RA. The team could then identify new cell signaling pathways.

“Comparing different types of epigenomic data is difficult because it involves a variety of different data subsets that cannot normally be analyzed together, including various methods in which DNA gets modified,” said Wei Wang, PhD, professor of chemistry, biochemistry and cellular and molecular medicine at UC San Diego School of Medicine.

“This methodology can also be used to find connections between other diseases, not just rheumatoid arthritis,” added Firestein. “As genes involved are discovered, researchers can potentially identify new treatment options and even repurpose existing drugs.”

Firestein and team studied the epigenome in cells from the joints of patients with RA. Patients with osteoarthritis, which is a disease of cartilage degeneration, served as a control group. Both data sets were analyzed through an expansive process that examines chromatin, DNA and histone modifications. The results produced 12 terabytes of data (12 trillion bytes) that were then analyzed using EpiSig.  

Epigenetics, or “above the genome”, is the study of processes that alter the gene structure without changing the DNA sequence itself. These DNA modifications are essential to human growth and development and change throughout people’s lives. Epigenetic changes are influenced by a variety of environmental factors, including stress, activity and lifestyle choices.

“By revealing the comprehensive epigenetics behind rheumatoid arthritis, we now have a better understanding of this disease. More importantly, our new approach, could not only help patients with rheumatoid arthritis, but also people with other immune-mediated diseases,” Firestein said.  

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Huntington’s disease – what are the signs, symptoms and treatments of Huntington’s disease?




Huntington's disease

Huntington’s disease

Huntington’s disease is an inherited condition that damages certain nerve cells in the brain.




This brain damage gets progressively worse over time and can affect movement, cognition (perception, awareness, thinking, judgement) and behaviour.

Early features can include personality changes, mood swings, fidgety movements, irritability and altered behaviour, although these are often overlooked and attributed to something else.

Read more about the features of Huntington’s disease.

Huntington’s disease was originally called Huntington’s chorea (“chorea” is the Greek word for dancing). This is because the involuntary movements associated with the condition can look like jerky dancing. However, “disease” is now the preferred term, because the condition involves a lot more than just abnormal movements.

Huntington's disease is caused by an inherited faulty gene. However, in around 3% of cases, there's no family history of the condition, normally because the parents died at a young age.

Read more about the cause of Huntington's disease.

Diagnosing Huntington's disease

If you have symptoms of Huntington's disease, your GP will refer you to a specialist clinician (usually a neurologist) if they feel your symptoms need further investigation.

The specialist will ask about your symptoms to assess how likely it is that you have Huntington's disease and to rule out similar conditions.




They may also test a number of physical functions, such as your eye movements, balance, control, movement and walking. Your speech and cognition may also be tested. All of these can be affected by Huntington's disease.

Genetic testing can be used to confirm the diagnosis.

Read more about how Huntington's disease is diagnosed.

Treating Huntington's disease

There's no cure for Huntington's disease and its progress can't be reversed or slowed down.

As the condition progresses, it may put a strain on family and relationships. Treatments for Huntington's disease aim to improve any mood disturbance; this is done to maintain skills used in daily living that can deteriorate over time.

Medication can help manage some of the symptoms, such as irritability or excessive movement. Therapies such as speech and language therapy and occupational therapy can help with communication and day-to-day living.

Support is also available for the family of a person with Huntington's disease. This includes, for example, testing family members who don't have any of the condition's features (manifest) to see whether they carry the gene, or help with choosing a suitable care home in advanced cases.

Read more about how Huntington's disease is treated and living with Huntington's disease.

Huntington's disease usually progresses and gets worse over a 10-25 year period from when it first appears, before the person eventually dies from it. During the condition's later stages, the person will be totally dependent and need full nursing care.

Death is usually from a secondary cause, such as heart failure, pneumonia or another infection.

Who's affected by Huntington's disease?

Both men and women with a family history of Huntington's disease can inherit the condition. Symptoms usually start to appear during adulthood.

Juvenile (children's) Huntington's disease develops before the age of 20. Only 5-10% of people with Huntington's disease develop it at a very young age, and the pattern of features may be different.

It was previously thought that 4-6 people in a population of 100,000 were affected by Huntington's disease. However, UK research carried out in 2012 found the actual figure for those affected by the condition to be about 12 people per 100,000.

It's thought that the number of people who have the Huntington's gene and are not yet affected is about twice that of those who have symptoms.

Current research

Research is underway to find disease-modifying medication and new treatments for the features of Huntington's disease.

Exciting progress has been made in identifying potential ways of slowing down or halting the condition by "switching off" the faulty gene that causes Huntington's disease.

See our page on clinical trials for Huntington's disease for details of the clinical trials that are currently running. You can find out more by visiting the European Huntington's Disease Network.

Information about you

If you have Huntington's disease, your clinical team will pass information about you on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register.

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6 Diseases You Could Have Right Now and Not Know It (Yikes!)




6 Diseases You Could Have Right Now and Not Know It (Yikes!)

6 Diseases You Could Have Right Now and Not Know It (Yikes!)

There are several diseases which affect people from different walks of life. Some diseases you may never know about them, but they affect many people. It is even worrying considering some of the diseases have no cure.




Diseases you could have right now and not know it

  1. Sudden Unexpected Death Syndrome

Just like the name suggests, it is a real disease, and it kills people from different parts of the globe. The health complication is common in young adult males from the ethnics of Laotian and Hmong descent. It affects healthy people, you just go to bed healthy, and you never wake up.

There are many cases of people from the ethnic group who have been affected by the health complication. It is worrying because there are no signs or even cure which can be tried to extend the life of people suffering from the disease. You can wake up with the death of your family member and stay worried not knowing when your day will come.

  1. Mad Cow Disease

The disease is incurable, and it is always fatal. The health complication eats holes in an individual’s brain hence leading to death. You will never know whether the meat you are eating is infected. To make it worse, even cooking the meat won’t sterilize the meat and get rid of the disease-causing agents. You may argue that you can avoid the disease by avoiding beef and dairy products, but you can’t know the type of meat or dairy product which has been affected by the disease.

  1. Huntington’s Disease

The disease causes your brain to unravel hence making the body move on its own. It leads to paranoia, hallucinations, speech impairment, anxiety, involuntary crying, involuntary limb movements among other complications.

The disease does not show up until you are above 35 years old. It is genetic and incurable which is sorrowful. You will struggle through the hard times in your 20s, after you reach 35 when you are about to settle, the disease ends your life. The uncontrolled movements can lead to accidents hence ending your life prematurely.

  1. Fish Odor Syndrome

It is an incurable illness. Fish odor syndrome is terrible. You can shower and apply those attractive perfumes before your date. But your body will produce an odor like the bad odor from rotting fish.




It can fluctuate depending on your diet. It is a condition which affects people, and it leads to embarrassments. The condition is genetic hence difficult to control. It just develops offering you no option to control it. Your life can be miserable with the disease. People will start avoiding you which will lead to stress. Remember stress can make your life short.

  1. Fatal Familial Insomnia

Many people nowadays fail to get enough sleep due to disruptions. The most common form of disruptions nowadays includes phones and watching till late night. But, the case is different if you are suffering from fatal familial insomnia. The condition will make you have an interrupted sleep as if you are watching an action movie.

The condition deteriorates to an extent where you will start losing weight. Hallucinations will set in at some point followed by panic attacks, and you will eventually die. It is a genetic condition which is incurable. If you have a relative who has never suffered from the condition, then you are probably in the line of developing the condition in the future.

  1. Pica

The disease creates cravings in your body for you to eat things which are not considered food. You can develop a craving for things such as plastic, rocks, paint, plaster and even dirt. You can imagine the damage the foreign particles will do to your body due to the increased and unreliable craving.

Normally people develop the craving for things such as pizza and popular snacks. But, the disease makes you develop a unique form of carving which can affect your body and health in general. Another health complication which you can face and it is incurable includes exploding head syndrome. The syndrome makes you hear things which are nonexistent. You will hear loud shots of guns and flashing lights when sleeping at night. It can make you unable to develop healthy sleep because it develops when you are about to sleep.

 

 

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Rare Disease Day 2015 – Please share to show your support!


28th of February this year sees Rare Disease Day 2015. As with previous years we are delighted to show our support for this important event.

Rare Disease Day is an annual awareness day dedicated to elevating public understanding of rare diseases and calling attention to the special challenges faced by patients and the community. You might be interested in a recent post on Huntington’s Disease we ran.

According to the National Institutes of Health (NIH), a disease is rare if it affects fewer than

Rare Disease Day 2015

Rare Disease Day 2015

200,000 people. Nearly 1 in 10 Americans live with a rare disease—affecting 30 million people—and two-thirds of these patients are children. There are more than 7,000 rare diseases and only approximately 450 FDA-approved medical treatments.


Rare Disease Day takes place every year on the last day of February (February 28 or February 29 in a leap year)—the rarest date on the calendar—to underscore the nature of rare diseases and what patients face. It was established in Europe in 2008 by EURORDIS, the organization representing rare disease patients in Europe, and is now observed in more than 80 nations. Rare Disease Day is sponsored in the U.S. by the National Organization for Rare Disorders (NORD)®, a leading independent, non-profit organization committed to the identification, treatment, and cure of rare diseases.
For more information about Rare Disease Day in the U.S.,or global activities click the relevant links.

To show your support please feel free to share the brilliant infographic below.

Rare Disease Day 2015

Rare Disease Day 2015

Rare Disease Day 2015

Rare Disease Day 2015

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Huntington’s Disease Awareness – Awareness Post for the Day


Huntington's Disease Awareness

Huntington’s Disease Awareness

Please share our Huntington’s Disease Awareness graphic from Donnee Spencer.

You can find out more about Huntington’s Disease here.

Please like and share to raise awareness.