11 Dec Alzheimer’s, Genetics and Sleep
By Hannah Crowe
This entry has been submitted for the BBC student critic of the year award. Entry requirements are: Students will need to submit three examples of work they have produced while in full- or part-time education and published or broadcast in media aimed either solely or predominantly at a student audience.
Alzheimer’s disease is one of several forms of Dementia, an umbrella term used to describe severe changes in the brain which contribute to memory loss and the death of brain cells. In AD, cognitive decline begins as a result of a build up of the proteins Beta Amyloid and Tau in the brain, which cause irreparable damage. Hard plaques and clusters of dead nerve cells are what lead to the heartbreaking symptoms of confusion, mood and behavioural changes, memory loss and sleep problems. It us not uncommon to eventually die from complications relating to Alzheimer’s.
There are currently around 850,000 people in the UK living with Dementia, and because of our ageing population as a result of our ability to swiftly manufacture drugs to cure illnesses that once killed us, these figures are set to climb. It has never been more critical for an effective therapeutic treatment for Alzheimer’s to be developed – the disease costs the UK economy £26 billion a year, and there have been significant setbacks in the development of drugs for the disease, which has been the case for the last few decades. Between 1998 and 2017, there were 146 unsuccessful attempts at developing medicine to halt or slow down it’s progression.
Older people are much more likely to become cognitively impaired, and as we age, memory problems become more common – the reason being that our brains simply don’t function like they used to, just like other parts of our bodies. However, forgetting the name of someone you just met versus frequently being unable to remember the name or face of a loved one, is often the difference between forgetfulness, and something more serious.
Although Alzheimer’s is more common in older people, Early-Onset Alzheimer’s can sadly start to appear in adults as young as 30 and 40. In the vast majority of early-onset cases (60-70%), scientists have identified three different genes which when mutated, are responsible for the development of the disease before age 65 – APP, PSEN 1 and PSEN 2. If you have a genetic mutation in one of those three genes, there is a chance you could develop Alzheimer’s before age 65.
Being diagnosed with a form of Dementia at any age is extremely difficult, but people with Early-Onset Alzheimer’s face unique challenges in the form of stigma, stereotypes and a general lack of understanding by others on what it means to live with Alzheimer’s as a younger adult.
Joanne’s husband Iain is 52, and has recently received a diagnosis for a life changing disease the couple had no knowledge of existing in adults as young as Iain.
“We had just arrived home from a holiday in France, and although we’ve been going to the same place for 20 years, Iain was finding it difficult to remember driving routes we had taken to our favourite restaurants hundreds of times. I knew something wasn’t quite right but I did not for one second think it was Alzheimer’s. We didn’t know you could even develop Alzheimer’s so early.”
Iain is part of the 5% of people with Alzheimer’s who develop the disease before the age of 65, and the family have been grappling with the decisions that are around the corner now that Iain has received an official diagnosis.
Megan Young BSc (Hons), MSc, MBPsS, is a patient engagement coordinator at a clinical research company currently trialling new drugs for Alzheimer’s disease.
“Lots of people with an Early Onset AD diagnosis tend to progress faster than other forms of Alzheimer’s, ie late onset, due to the genetic mutations which accelerate Amyloid production – but every case is different, and people who have Early Onset Alzheimer’s can also live a long time, although this is met with significant challenges socially and medically.”
Joanne and Iain have two daughters, Niamh and Aoife, who are both thinking about genetic testing which would tell them whether or not they’ve inherited their father’s mutated gene. A positive test for these genes have implications beyond the physical aspect of the disease itself, and are likely to impact eligibility for long-term care, disability and life insurance. Aoife is 23 and studying for her Finance MA, and says her entire outlook on life has shifted.
“Dad’s diagnosis has absolutely altered my world as I know it. If there is something we can do as a preventative measure then we of course want to know about it. But from what I’ve read, not much can be done. It’s really tough to deal with, actually. We aren’t doing too well as a family.”
Megan works closely with Alzheimer’s Society through her work, who often prescribe music or other socially stimulating activities for patients who are in the late stages of the disease. Social prescribing is common, since there are no approved treatments that cure the disease.
“In terms of preventative measures there are currently no approved treatments that slow down the progression or prevent the disease, however research has found that a balanced diet, a physically fit lifestyle and keeping mentally active and stimulated can slow down progression with both early and late onset disease.”
Whilst we are all bound by our genetics, the general consensus amongst researchers and scientists who study Alzheimer’s is that a combination of environmental, genetic, and lifestyle related factors contribute to its development. Very recently, there has been significant research by Berkeley Professor of Neuroscience and Psychology Matthew Walker, on the link between lack of sleep and the accumulation of Beta Amyloid and Tau clusters, which are two known biomarkers associated with Alzheimer’s disease.
Walker is the founder and director of the Centre for Human Sleep Science, located in UC Berkeley’s department of Psychology, in association with the Helen Wills Neuroscience Institute. With the use of brain imaging methods in his sleep labs, such as MRI and PET scanning, high-density sleep electroencephalography, genomics, proteomics and cognitive testing, Walker has published several papers on the importance of REM (Rapid Eye Movement) sleep and its use in clearing out toxins from our brain, in what we now know to be the brains version of our Lymphatic system. The recently discovered Glymphatic system is most effective when you enter a deep sleep, and in a lumbar puncture (a procedure which involves a needle being inserted into the spinal cord to collect cerebrospinal fluid) performed by Walker on study participants who were either given a full night’s rest or an interrupted sleep cycle, Walker observed a higher percentage of Tau and Amyloid build up in the cerebrospinal fluid of those who were deprived of a proper night’s sleep.
It would arguably be mother nature’s biggest biological error to prescribe sleep for a third of our lives if it wasn’t absolutely imperative for our well-being. Poor sleep has been a known hallmark of Alzheimer’s disease for decades, but poor sleep potentially leading to the build up of the protein in the brain that causes brain cell death and in turn, Alzheimer’s, is a new and profound avenue for researchers to explore. Once brain cells die, there is very little that can be done to repair this damage, and herein lies the problem for the dozens of pharmaceutical companies that are currently in a race to develop a drug that will ideally slow down or halt the cognitive decline of Alzheimer’s patients.
