Five genes have been identified which may play a critical role in determining whether a person will suffer from Lewy body dementia.
The findings of the study not only support the disease’s ties to Parkinson’s disease, but also suggest that people who have Lewy body dementia may share similar genetic profiles to those who have Alzheimer’s disease.
“Lewy body dementia is a devastating brain disorder for which we have no effective treatments,” says Sonja Scholz, investigator at the NIH’s National Institute of Neurological Disorders and Stroke (NINDS) and the senior author of the study.
“Our results support the idea that this may be because Lewy body dementia is caused by a spectrum of problems that can be seen in both disorders.
“We hope that these results will act as a blueprint for understanding the disease and developing new treatments.”
A growing body of evidence suggests genetics may play a role in the disorder and that some cases may be inherited.
Scientists have found that some of these rare cases can be caused by mutations in the gene for alpha-synuclein (SNCA), the main protein found in Lewy bodies.
Further studies have found that variants in the gene for apolipoprotein E (APOE), which is known to play a role in Alzheimer’s disease, may also play one in Lewy body dementia.
“Compared to other neurodegenerative disorders, very little is known about the genetic forces behind Lewy body dementia,” says Dr Bryan Traynor, senior investigator at the NIH’s National Institute on Ageing (NIA).
“To get a better understanding we wanted to study the genetic architecture of Lewy body dementia.”
To do this, they compared the chromosomal DNA sequences of 2,981 Lewy body dementia patients with those of 4,931 healthy, age-matched control participants.
Samples were collected from participants of European ancestry at 44 sites: 17 in Europe and 27 across North America.
Initially, they found that the sequences of five genes from the Lewy body dementia patients were often different from those of the controls, suggesting that these genes may be important.
It was the first time that two of the genes, called BIN1 and TMEM175, had been implicated in the disease.
These genes may also have ties to Alzheimer’s and Parkinson’s diseases.
The other three genes, SNCA, APOE, and GBA, had been implicated in previous studies, and thus, strengthened the importance of the genes in Lewy body dementia.
The researchers also saw differences in the same five genes when they compared the DNA sequences of another 970 Lewy body dementia patients with a new set of 8,928 control subjects, confirming their initial results.
Further analysis suggested that changes in the activity of these genes may lead to dementia and that the GBA gene may have a particularly strong influence on the disease. The gene encodes instructions for beta-glucosylceramidase, a protein that helps a cell’s recycling system break down sugary fats.
The researchers found that both common and rare variants in the GBA gene are tied to Lewy body dementia.
“These results provide a list of five genes that we strongly suspect play a role in Lewy body dementia,” said Dr. Traynor.
Finally, to examine the apparent links between Lewy body dementia and other neurodegenerative diseases, the researchers further analysed data from previous studies on Alzheimer’s and Parkinson’s disease.
They found that the genetic profiles of the patients in this study had higher chances of suffering from either Alzheimer’s or Parkinson’s disease than the age-matched control subjects.
These predictions held even after they lowered the potential impact of known Alzheimer’s and Parkinson’s disease-causing genes, like APOE and SNCA. Interestingly, the patient’s genetic risk profiles for Alzheimer’s disease, on the one hand, or Parkinson’s disease, on the other, did not overlap.
“Although Alzheimer’s and Parkinson’s disease are molecularly and clinically very different disorders, our results support the idea that the problems that cause those diseases may also happen in Lewy body dementia,” adds Dr Scholz.
“The challenge we face in treating these patients is determining which specific problems are causing the dementia. We hope studies like this one will help doctors find precise treatments for each patient’s condition.”
New company launched to drive forward Parkinson’s research
Charity Parkinson’s UK is to launch a new company dedicated to driving forward research into Parkinson’s disease.
Vivifi Biotech has been created to lead and plan preparations for a new trial into the role of the restorative protein glial cell-derived neurotrophic factor (GDNF) in Parkinson’s.
Launched through the charity’s drug development arm, Parkinson’s Virtual Biotech, up to £800,000 will be invested over the next two years as efforts continue to find a life-changing new treatment for people living with the disease.
Plans for a new trial build on the initial groundbreaking clinical investigations in GDNF, the results of which proved inconclusive but did show some signs that the treatment may have started to regenerate participants’ dopamine-producing brain cells.
“The unwavering passion and determination of the GDNF participant group has ensured that the potential of GDNF, and the role of patients in research, has never been forgotten,” says Paul Jackson Clark, director of engagement at Parkinson’s UK.
“They’ve tirelessly campaigned, fundraised and shared their experience with us, enabling us all to get to this monumental point.
“We now have the chance to see if we can find a life-changing new treatment that people with Parkinson’s desperately need. There are still plenty of obstacles but this announcement gives us the opportunity to move things forward together.”
Parkinson’s UK was the major funder of the initial trial, which investigated whether boosting levels of GDNF could slow, stop or reverse the progression of Parkinson’s.
Tom Phipps was a participant in the GDNF trial.
“My outcome was as positive as I could have wished for, I feel the trial brought me some time and has delayed the progress of my condition,” he says.
“The trial participants have always believed in GDNF’s potential,” said Parkinson’s UK in their announcement.
“So have we and the other organisations involved in the trial.
“Some participants tell us they’re still experiencing the benefits, years on from undergoing this experimental therapy. We’ve been working with them since the end of the trial.
“Together, we want to make sure we’ve explored every option.”
Music group launched to support BAME community
A music group established to support people living with dementia, memory loss and brain injury has received funding to launch an online project for the South Asian and BAME community.
Leicester Musical Memory Box (LMMBox) was founded in July 2018, and since that time has grown from one group in the city to six, providing interactive music sessions for people of all ages and backgrounds, including a group specific to the South Asian community.
The group – which has two staff members who are fluent in Gujarati, Hindi, Punjabi and Urdu – aims to provide the local community with a supportive network and a safe space to explore the unique challenges that a brain injury may bring to individuals, as well as their families and carers.
The new online music project is named ‘Geet Sangeet’ – translated as ‘Songs Sung Together’ – and will incorporate music and cultural references specific to the South Asian community, led by group leader Beena Masand from LMMBox.
Each session will begin with gentle exercises to warm up the body and brain, followed by singing and discussion about various music, songs, and media.
Attendees will also receive their own ‘musical memory box’ in a bag to help increase the interactivity of the sessions.
The project has received funding from the new Local Connections Fund, and is in collaboration with Headway Leicester.
Music has proven benefits for people with memory problems or a brain injury, including enabling people to connect with past experience and enabling freedom of expression, confidence and independence.
Attendance at the groups also helps to improve mood and reduce feelings of social isolation.
“We know we are providing a vital service to our members and receive enquiries regularly,” says Kyle Newman, group leader and co-director of LMMBox.
“In spite of the lockdown, we are thrilled to be able to once again provide a culturally specific group for the South Asian community.
“We also know that the group leader needs to come from that community and have the music and cultural knowledge to be able to engage participants effectively.”
“We are delighted to collaborate with LMMBox and reach out to more people across Leicester who have been affected by brain injury,” adds Mary Goulty, service manager at Headway Leicester.
“There is a clear need for a support service within the BAME community and that’s why we launched our BAME group last year, which is providing a vital lifeline to brain injury survivors we support and their families.”
To contact LMMBox, visit www.leicestermusicalmemorybox.co.uk
For support with brain injury in the Leicester community, visit www.headwayleicester.org.uk.
Art Therapy offers an emotional outlet for those living with a Traumatic Brain Injury (TBI)
Masks not only allow us to hide our true feelings but to also express them without fear of judgement.
Being able to ‘hide’ one’s true self, may be a way, for others, to truly ‘show’ themselves.
For this reason, Chroma therapists began delivering Art Therapy sessions online to those living with a Traumatic Brain Injury (TBI) in an attempt to help them express their emotions in a creative, non-threatening way.
A TBI can have devastating effects upon a person’s mental health, as well as physical, with emotional issues caused by significant, sudden changes in appearance and abilities.
Studies have found Art Therapy to be effective in helping TBI patients with emotional expression, socialisation, emotional adaptation to mental and physical disabilities, and communication in a creative and non-threatening way.1
Self-expression is fundamental in processing the effects of a TBI. Take a look at the image below.
On the left is the base mask. During the process of art therapy, across a number of sessions, the participant talks, reflects and begins to create ideas or metaphors which then get placed onto the base mask. Often this depicts the face he presents to the outside world, in contrast with the dual parts of to his inner personality including a bright peaceful side and a dark, tumultuous side.
Based on the sessions, Chroma therapists are better able to gauge the patient’s feelings, discuss the final piece and help the patient begin to process their emotions.
In effect, art therapy offers a creative gateway to communication and used in this way, tries to enable the participant to externalise their inner thoughts and feelings.
As a therapy, it has been shown to help reduce feelings of stress, promote creativity and imagination as well as increase self-expression, confidence and communication.
Chroma began delivering these sessions as a way to allow clients to reveal thoughts and feelings about themselves which they may find hard to express, or may not even be aware of, and which may be being expressed through more difficult behaviours.
They also create an opportunity for greater communication, allowing therapists to gain a deeper understanding of the client’s thoughts, anxieties and feelings.
Being able to express themselves creatively helps the client reveal their true feelings, which in itself can be cathartic – a relief to release their emotions, in a personal, safe space.
Chroma continues to deliver these sessions online to help reach as many TBI sufferers across the UK as possible in an attempt to help them begin to process their emotions concerning the effects the TBI had upon them, with the outlook to help improve their mental wellbeing which in turn will help promote a positive outlook to life and rehabilitation outcomes.
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