Do Genes Cause Diseases
Genetic mutations can cause diseases. If a person inherits a genetic mutation that causes a certain disease, then he or she will usually get the disease. Sickle cell anemia, cystic fibrosis, and some cases of early-onset Alzheimer’s disease are examples of inherited genetic disorders.
Other changes or differences in genes, called genetic variants, may increase or decrease a person’s risk of developing a particular disease. When a genetic variant increases disease risk but does not directly cause a disease, it is called a genetic risk factor.
Identifying genetic variants may help researchers find the most effective ways to treat or prevent diseases such as Alzheimer’s in an individual. This approach, called precision medicine, takes into account individual variability in genes, environment, and lifestyle for each person.
The expression of geneswhen they are switched on or offcan be affected, positively and negatively, by environmental and lifestyle factors, such as exercise, diet, chemicals, or smoking. The field of epigenetics is studying how such factors can alter a cell’s DNA in ways that affect gene activity.
Stimulating Exercises For People With Dementia
Dementia is a progressive disease, meaning symptoms get worse over time. The progression of dementia is different for every individual for some people, it progresses rapidly, whereas for others, it may progress over the span of several years. However, research shows that cognitive stimulation helps reduce decline in cognitive function for individuals with mild to moderate dementia.
Here are 10 stimulating exercises for people with dementia:
1. Create a Memory Box
Since most forms of dementia affect an individuals memory, looking through a memory box with pictures of their loved ones and happy moments can be a great reminiscent activity. The memory box can consist of anything, not just pictures. It promotes engagement opportunities for patients living with dementia, as well as for their loved ones and caregivers.
2.Cook Simple Recipes
The process of cooking and baking requires motor skills, thinking, and short-term memory. Also, the smell or taste of their favourite childhood recipe allows the individual to have a reminiscent experience while cooking. Cooking healthy recipes helps improve general health, and is also beneficial for brain health.
3.Listen and Dance to Music
Similar to the memory box, listening to music that the individual enjoys can provide comfort and feelings of nostalgia. A bonus benefit of this activity is that it encourages dancing, a physical activity that helps keep you in healthy shape!
4 .Work on a Picture Puzzle
5. Household Chores
8. Read a Book
The Genetics Of Alzheimers Disease
Robert C. Barber
1Department of Pharmacology and Neuroscience, University of North Texas Health Science Center, 3500 Camp Bowie Boulevard, Fort Worth, TX 76107, USA
Abstract
Alzheimers disease is a progressive, neurodegenerative disease that represents a growing global health crisis. Two major forms of the disease exist: early onset and late onset . Early onset Alzheimers is rare, accounting for less than 5% of disease burden. It is inherited in Mendelian dominant fashion and is caused by mutations in three genes . Late onset Alzheimers is common among individuals over 65 years of age. Heritability of this form of the disease is high , but the etiology is driven by a combination of genetic and environmental factors. A large number of genes have been implicated in the development of late onset Alzheimers. Examples that have been confirmed by multiple studies include ABCA7, APOE, BIN1, CD2AP, CD33, CLU, CR1, EPHA1, MS4A4A/MS4A4E/MS4A6E, PICALM, and SORL1. Despite tremendous progress over the past three decades, roughly half of the heritability for the late onset of the disease remains unidentified. Finding the remaining genetic factors that contribute to the development of late onset Alzheimers disease holds the potential to provide novel targets for treatment and prevention, leading to the development of effective strategies to combat this devastating disease.
1. Introduction
2. Familial Alzheimers Disease
2.1. Amyloid Precursor Protein
2.2. Presenilins 1 and 2
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Genetic Testing For Alzheimer’s Disease
A blood test can identify which APOE alleles a person has, but results cannot predict who will or will not develop Alzheimer’s disease. Currently, APOE testing is used primarily in research settings to identify study participants who may have an increased risk of developing Alzheimer’s. This knowledge helps scientists look for early brain changes in participants and compare the effectiveness of possible treatments for people with different APOE profiles.
Genetic testing is also used by physicians to help diagnose early-onset Alzheimers disease and to test people with a strong family history of Alzheimers or a related brain disease.
Genetic testing for APOE or other genetic variants cannot determine an individuals likelihood of developing Alzheimers diseasejust which risk factor genes a person has. It is unlikely that genetic testing will ever be able to predict the disease with 100 percent accuracy, researchers believe, because too many other factors may influence its development and progression.
Some people learn their APOE status through consumer genetic testing or think about getting this kind of test. They may wish to consult a doctor or genetic counselor to better understand this type of test and their test results. General information about genetic testing can be found at:
What About Alzheimers Disease
So what is more worrisome, forgetting the name of the film you watched the previous night, or mixing up the names of famous singers?
Typically, Alzheimers disease is associated with a decline in episodic memory. Patients will complain that they cant remember events theyve experienced, conversations theyve had or things theyve done. It is this type of memory that is most often tested in neuropsychology when assessing dementia, and it is also this type of memory that is studied in the vast majority of research being carried out on Alzheimers disease.
However, a new paradigm is emerging in clinical research, particularly in the laboratory where we conduct our research.
Recent studies show that in the progression of Alzheimers disease, semantic memory is affected first. We have seen that even before forgetting their memories of past events, patients show a gradual decline in their general knowledge.
For example, they have more difficulty than healthy older adults in naming celebrities such as Albert Einstein, or identifying well-known logos such as Pepsi. They also have difficulty answering questions about the biography of celebrities for example, whether Maurice Richard was a singer answering specific questions about objects or animals does an ostrich run, fly or swim? or recognizing objects such as a harmonica, a helicopter or an igloo from a drawing.
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Where Mild Cognitive Impairment Fits In
Diagnosing and determining the type of dementia a person has can also get tricky because some people dont have full-blown dementiathey have what doctors refer to as mild cognitive impairment or MCI. With dementia, Dr. Scharre says, you often need other people to do activities for you that you used to be able to manage on your own , but with MCI, you can still do those things even if you need a bit of prompting. So youre forgetful, youre less efficient, and maybe you need verbal clues, but you can still do the function yourselfthats MCI, says Dr. Scharre.
Which Types Of Dementia Are Hereditary
Its true that genes might have a role in dementia, but the patterns of inheritance vary. Environmental and lifestyle factors also greatly affect our chances of developing a particular disease we may have inherited, so an active, healthy lifestyle is important to avoid many types of illness.
With that being said, current research shows that people who have a parent or sibling with Alzheimers are more likely to develop the disease than those who do not. There also is a difference between early-onset and late-onset, with the latter putting individuals at higher risk. Again, this research is still being developed and depends a lot on the health of the individual.
On the other hand, vascular dementia, dementia with Lewy bodies, and fronto-temporal dementia have not yet been linked to genetics in most cases. The genetic factors instead are linked more to the underlying causes of these dementias or the possibility of gene links to other aspects of these conditions. So out of the four common types of dementia, Alzheimers is the type with the most likely genetic link based on current research.
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Are There Different Types Of Alzheimer’s Disease
Alzheimers drug trials have been fraught with failure. A;study last year;that made headlines reported more than 99% of all Alzheimers drugs have flopped in the past decade, and only one new medicine to mediate symptoms of the disease has been approved since 2004.
The problem is, scientists still dont know what exactly causes Alzheimers disease, though a protein called amyloid beta is most often implicated. Scientists think that amyloid-beta proteins build up and form deposits, known as amyloid plaque, which are to blame for the characteristic cognitive declines of the disease. Most Alzheimers drugs tested in clinical trials have used amyloid beta as the pharmacological target. The study found that out of 221 trials of disease-modifying agents registered from 2002 to 2012, more than 65% or 145 trials involved experimental drugs that targeted amyloid beta.
The other target drug developers have been interested in is a protein called tau, which has been found in deposits in the brains of people with a variety of neurological diseases. But;tau-related therapies have also failed, leading some researchers to speculate that the existence of these proteins may not be the major culprit behind this devastating condition after all or, at the very least, other factors are at play.
Help From The Ontario Government
Caring for someone with dementia can be difficult, but help is available. Each province in Canada offers different resources and programs for dementia patients and caregivers. Were going to look at the options available in Ontario, however if you live in a different province, similar options will likely be provided.
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Who Has Alzheimers Disease
- In 2020, as many as 5.8 million Americans were living with Alzheimers disease.1
- Younger people may get Alzheimers disease, but it is less common.
- The number of people living with the disease doubles every 5 years beyond age 65.
- This number is projected to nearly triple to 14 million people by 2060.1
- Symptoms of the disease can first appear after age 60, and the risk increases with age.
Medications For Cognitive Symptoms
No disease-modifying drugs are available for Alzheimers disease, but some options may reduce the symptoms and help improve quality of life.
Drugs called cholinesterase inhibitors can ease cognitive symptoms, including memory loss, confusion, altered thought processes, and judgment problems. They improve neural communication across the brain and slow the progress of these symptoms.
Three common drugs with Food and Drug Administration approval to treat these symptoms of Alzheimers disease are:
- donepezil , to treat all stages
- galantamine , to treat mild-to-moderate stages
- rivastigmine , to treat mild-to-moderate stages
Another drug, called memantine , has approval to treat moderate-to-severe Alzheimers disease. A combination of memantine and donepezil is also available.
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What Are The Early Warning Signs Of Dementia To Watch For
Now that you know the four common types of dementia, there are 10 early symptoms you should watch for if you begin to notice changes in your loved one. Noticing memory problems in your loved one doesnt immediately mean its dementia.
There needs to be at least two types of impairment that are significantly impacting the person: memory loss plus difficulty with communication, language, focus, or reasoning.
Here are 10 early symptoms of dementia to watch for:
If your loved one is beginning to experience these symptoms, talk to their doctor to rule out any other factors and get a proper diagnosis. An early diagnosis and treatment can be beneficial, so dont delay in getting help.
Health Environmental And Lifestyle Factors
Research suggests that a host of factors beyond genetics may play a role in the development and course of Alzheimers. There is a great deal of interest, for example, in the relationship between cognitive decline and vascular conditions such as heart disease, stroke, and high blood pressure, as well as conditions such as diabetes and obesity. Ongoing research will help us understand whether and how reducing risk factors for these conditions may also reduce the risk of Alzheimers.
A nutritious diet, physical activity, social engagement, and mentally stimulating pursuits have all been associated with helping people stay healthy as they age. These factors might also help reduce the risk of cognitive decline and Alzheimers. Researchers are testing some of these possibilities in clinical trials.
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What To Do If Youre Worried About Your Memory
If you suspect youre experiencing any warning signs of dementia , the first thing to do is see a physician. Dr. Scharre recommends asking for a cognitive assessment at your annual physical so your results can be compared year-over-year and declines can be identified and addressed right awayjust like a colonoscopy, blood pressure screening, or cholesterol testing.
As with any medical condition, typically the earlier you identify it, the more options you have for treatment and typically the better you do, he says. Some forms of dementia have treatable causes while others like Alzheimers are also treatable, just not reversible or curable. Thatnew medication the FDA approved for Alzheimers, for example, only works in the mild cognitive impairment stagethats where its sweet spot is and if you start getting even a little bit more than mild dementia its not useful.
Symptoms Of Alzheimers Disease
Alzheimers disease symptoms often mimic symptoms of everyday stress, and it can be easy to go for a long time without recognizing a larger issue. While losing a restful nights sleep can lead to symptoms including an impaired ability to focus, short- and long-term memory loss, and poor mood, these symptoms are also common signs of early stages of Alzheimers disease. Other symptoms of the condition include:
- Inability to recall numerical sequences like phone numbers and addresses
- Difficulty planning and solving problems
- Trouble completing or remembering to do everyday tasks like self-care and chores
- Forgetting material you just watched or read, as well as misplacing things often
- Withdrawing from social situations and changes in personality;
Symptoms of early-onset Alzheimers disease differ only in that they appear between the ages of 30 and 65, whereas late-onset AD is diagnosed in people over age 65. While it may be very difficult to determine if you simply need more sleep or food, one way to recognize a larger memory problem is to note how affected your daily life is by the presence of these symptoms.;
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Stages Of Alzheimers Disease
People with Alzheimers disease differ in the patterns of problems they experience and in the speed with which their abilities deteriorate. Their abilities may change from day to day, or even within the same day. What is certain is that the persons abilities will deteriorate sometimes rapidly over a few months, sometimes more slowly, over a number of years.Some of the features of Alzheimers disease are classified into three stages. It is important to remember that not all of these features will be present in every person, nor will every person go through every stage. But these stages are still a useful description of the progression of Alzheimers disease.At all stages of Alzheimers disease, treatments and support services are available. Use these to make sure of the best possible quality of life for everyone affected by Alzheimers disease.
Types Of Alzheimer’s Disease
Nearly everyone with Alzheimerâs disease will eventually have the same symptoms — memory loss, confusion, trouble with once-familiar tasks, and making decisions. While the manner of the disease development remains unclear, all forms of Alzheimer’s appear to share overproduction and/or decreased clearance of a type of protein called amyloid beta peptides. Though the effects of the disease are similar, there are two main types.
- Early-onset Alzheimer’s. This type happens to people who are younger than age 65. Often, theyâre in their 40s or 50s when theyâre diagnosed with the disease. Itâs rare — up to 5% of all people with Alzheimer’s have early-onset. People with Down syndrome have a higher risk for it.Scientists have found a few ways in which early-onset Alzheimerâs is different from other types of the disease. People who have it tend to have more of the brain changes that are linked with Alzheimerâs. The early-onset form also appears to be linked with a defect in a specific part of a personâs DNA: chromosome 14. A form of muscle twitching and spasm, called myoclonus, is also more common in early-onset Alzheimer’s.
- Late-onset Alzheimer’s. This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers havenât found a particular gene that causes it. No one knows for sure why some people get it and others donât.
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Where To Get Help
- Your local community health service
- Your local council
- National Dementia Helpline Dementia Australia;Tel. 1800 100 500
- Aged Care Assessment Services Tel. 1300 135 090
- My Aged Care Tel. 1800 200 422
- Cognitive Dementia and Memory Service clinics Tel. 1300 135 090
- Carers Victoria Tel. 1800 242 636
- Commonwealth Respite and Carelink Centres Tel 1800 052 222
- Dementia Behaviour Management Advisory Service Tel. 1800 699 799 for 24-hour telephone advice for carers and care workers