So did you ever wonder what happens to the tadpole’s tail? Does it just fall off? No actually. Lysosomes eat it. (autophagy: the cell’s ability to eat itself…) And the webbing in our fingers and toes as fetus’s. Eaten by lysosomes.
This is a great, short and extremely informative piece on these tiny little organelles that are so important to our well-being.
Is the lysosome the first place we should look when we have issues in the body? Not the last? Hmmmm…
Here is another story of an amazing young man and his family.
The correlations between Lysosomal Disease and much more well-known issues like Alzheimer’s are being uncovered every day. With continued press, public awareness and research like the SOAR program, I think great strides will be made quickly over the next several years in treatments and therapies developed for Lysosomal Disease. And as we become increasingly aware of the lysosome as a root cause of many common, chronic ailments, the general population will insist on more research, and children, teens and adults with “rare” Lysosomal Disease will reap the benefits.
That’s my prediction. Watch the video linked below, tell me what you think.
The following article was released today by Dr. John Hopwood, who also sits on the International Scientific Advisory Board of the Hide & Seek Foundation. I find it to be the first article that I have read, that I haven’t written, to accurately address the issue of Lysosomal Disease today, as it affects us all. Each and every one of us has lysosomes, and if there is any problem at all within this ultra important organelle, the result can be any number of the most common human (and animal) conditions known to us. It is absolutely time to pay attention.
- Stephanie
Cell malfunction linked to many diseases
Danny Rose
May 21, 2009 – 1:04AM
The tiny “recycling unit” at the core of every human cell can fail, and research is increasingly placing this malfunction at the root of a host of common deadly illnesses.
Alzheimer’s disease, stroke, heart disease and certain cancers can all be linked to a dysfunction of the lysosome, says South Australian biochemical geneticist Professor John Hopwood.
“You might think these lysosomal diseases are uncommon but in fact we’ve been studying the tip of an iceberg,” Prof Hopwood says.
“The more we study these disorders … it turns out the lysosome has a big role to play in many illnesses that the community has.”
Lysosomal disease is a process which sees affected human cells lose their ability to create new versions of themselves, instead becoming clogged as genetic “material gets into the recycler but can’t get out”, Prof Hopwood explains.
His team at Adelaide’s Women’s and Children’s Hospital led the development of world-first treatments for two rare lysosomal diseases – Maroteaux-Lamy and Hunter syndromes.
These and other Lysosomal disease occur in one in every thousand children and it results in developmental delays, bone deformities, heart and breathing difficulties, behavioural problems and a shortened life span.
Prof Hopwood has also developed a test able to highlight these genetic conditions in newborns, allowing treatment to get underway before irreversible features develop.
While his work has focused on treating children with these rare conditions, Prof Hopwood says the field’s future would also go to unearthing the links between lysosomal disorders and common diseases.
In the brain, the disorder was known to lead to the loss of brain matter which, over time, could manifest as Alzheimer’s or dementia.
“Where you have heart failure because a valve doesn’t function properly, it may be due to poor signalling by control systems that are influenced by these lysosomal storage disease problems,” Prof Hopwood says.
“So these rare diseases give us an insight into the ‘berg’ part of the ‘iceberg’, which is affecting the majority of us.
“And if we can understand how it contributes then we can reduce the impact of all of these disorders in the community.”
The Australian Academy of Technological Sciences and Engineering (ATSE) paid tribute to Prof Hopwood for his 25 years work in the field at a gala event in Sydney on Wednesday night.
He was announced as one of the recipients of a 2009 ATSE Clunies Ross Award, which recognises the nation’s pre-eminent scientists who have bridged the gap between research and the marketplace.
There has been a lot in the media lately describing a Lysodisorder as childhood Alzheimer’s: Niemann-Pick type C.
They describe Niemann-Pick using this term to help audiences immediately recognize what’s happening to these kids (dementia, memory loss, deteriorating brain capacity, etc). And this description isn’t only reserved for NPC–one of the more than 60 Lyso-diseases. Almost all Lyso-diseases follow this pattern, both neurologically and physically, when symptoms become present in infant and childhood years. It is a prime example of mental deterioration, and for good reason. In fact, I have read a paper that cites Lysosomal Disease as THE LEADING CAUSE OF MENTAL RETARDATION IN CHILDREN. And, there are a lot of correlations between Alzheimer’s and Lyso-disease, as my juvenile scientific research abilities have found, especially in their treatment methods.
This article in Science Daily describes how a UCLA medical team discoverd that Sanfilippo Syndrome type B, a lysosomal storage disease affecting children–it develops in the young brain causing severe mental retardation and death as early as age 14–can be treated with Alzheimer’s medication.
And this article from eMaxHealth.com states, “Translational experiments now are in progress to evaluate the potential of a unique gene delivery technology [injecting a gene infused virus into specific brain cells to get nerve cells themselves to help disperse gene therapy to the targeted region] for the treatment of cortical dementias such as Alzheimer’s disease and lysosomal storage disorders in children.”
Perhaps future research will uncover further correlations between the two conditions and thier treatments. Until then, we’ll keep our eyes peeled.
Imagine you’re pregnant and you’ve just learned that the baby has Lysosomal Disease.
Chances are you have never heard of this condition before, then you’re told how incredibly devastating the progression of the disease is. But you aren’t you told whether your fetus has the most severe, fatal type of Lyso-disease. Below is the plight of a woman faced with making the awful decision of whether or not to terminate such a pregnancy (found originally on commonsensesd.org).
What does Jewish law/halacha say about abortion when the baby will not be able to have a normal life?
My husband and I are Jewish. I’m pregnant but I found out recently that the baby has Tay-Sachs. I’m thinking of just getting an abortion because the baby wont be able to live a normal life and will be subjected to suffering anyway. What does Jewish law say about this?
(please don’t answer if you don’t really know what you’re talking about. I want to have the answers of people who are actually Jewish)
You should consult a rabbi who is a posek qualified to decide on such legal matters) before you make any decision.
This is what I was able to find on the topic:
As a rule, Jewish law does not assign relative values to different lives. Therefore, almost most major poskim (Rabbis qualified to decide matters of Jewish law) forbid abortion in cases of abnormalities or deformities found in a fetus. Rabbi Moshe Feinstein, one the greatest poskim of the past century, rules that even amniocentesis is forbidden if it is performed only to evaluate for birth defects for which the parents might request an abortion. Nevertheless, a test may be performed if a permitted action may result, such as performance of amniocentesis or drawing alpha-fetoprotein levels for improved peripartum or postpartum medical management.
While most poskim forbid abortion for “defective” fetuses, Rabbi Eliezar Yehuda Waldenberg is a notable exception. Rabbi Waldenberg allows first trimester abortion of a fetus that would be born with a deformity that would cause it to suffer, and termination of a fetus with a lethal fetal defect such as Tay Sachs up to the seventh month of gestation.14 The rabbinic experts also discuss the permissibility of abortion for mothers with German measles and babies with prenatal confirmed Down syndrome.
This entry was posted on Tuesday, May 12th, 2009 at 1:16 am and is filed under Abortion law. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.
If I had found out in utero that my son, Tristen, now 13, had Lysosomal Disease–he specifically has Niemann Pick–I would most definitely have had an abortion. You see, Tristen has type B Niemann Pick, which is like a juvenile onset of Tay Sachs, Gaucher or any of the other LysoDiseases. But today’s technology is only sufficient enough to tell us of the disease’s presence in fetuses, not it’s severity. They couldn’t have told me he’d be alive today and happy and healthy and the joy of my life.
Like the mother whose story is above, I too had an amnio because my Alpha Fetal Protein test come back positive (it ended up being a false positive, due tothe blood in my amniofluid) and, because doctors don’t screen for Neimann Pick in those genetic testings, we were cleared with a false positive and thought everything was fine. Interesting.
I hate that there are moms (and dads, too) out there that have to decide the outcomes of their children’s lives based off these inconclusive test results.
I wonder if the medical community has the ability to differentiate between the most severe cases of infantile Tay Sachs and the later adult onset variety. I wonder if it makes a difference to these, or any, parents. This situation is so personal that there can’t be a blanket right or wrong answer, can there?
In an effort to establish a greater community connection, educate the public on Lysosomal disease and promote our new (eco-friendly!) business venture, Hide and Seek Boutique—a second hand furniture and home-goods store whose proceeds benefit disease research—we will be participating in this weekend’s Green Long Beach Festival.
This fun and important effort to bring the Long Beach community together for collaboration, celebration, and education takes place tomorrow, Saturday, May 9th, in the East Village Arts District at 1st Street and Linden Avenue.
Stop by our booth for some free books, dollar merchandise from the shop and educational literature on Lysosomal disease and Hide and Seek’s mission. We’d be pleased to make your acquaintance. Hope to see you there!
I am pleased to share with all our NPD families news from Genzyme
Corporation that they have completed the Phase 1 trial of rhASM in
Niemann-Pick Type B patients. Listed below is a statement from Betsy
Bogard, Program Director at Genzyme summarizing same:
Update from Genzyme: Completion of Phase 1 Clinical Trial
Genzyme is pleased to announce that its Phase 1 clinical trial of
recombinant human acid sphingomyelinase (rhASM) as a potential treatment for
Acid Sphingomyelinase Deficiency (ASMD, Niemann-Pick Disease Type B) was
completed in April 2009. The main purpose of this trial was to evaluate the
safety of different doses of rhASM in adults with ASMD. A total of eleven
patients were treated with single doses of rhASM ranging from 0.03 mg/kg up
to 1 mg/kg administered intravenously. The trial took place at Mt. Sinai
Medical Center in New York City.
The results of this trial have given an indication for the best ways to
administer the drug intravenously to patients and effectively monitor for
potential side effects. Genzyme is completing the Phase 1 data analyses and
preparing for a Phase 2 trial that is expected to begin in 2010 and will
likely involve giving repeat doses of rhASM. Genzyme plans to disseminate
key findings from the Phase 1 trial as they become available.
Completion of the Phase 1 trial marks an important, hard-earned, and
long-awaited milestone for the Niemann-Pick B disease community. Our sincere
appreciation goes to all the patients who participated in the trial and
their families. Genzyme thanks Drs. McGovern and Wasserstein at Mt. Sinai
for their leadership of the trial and Jessica Cristian and Erin Starrett for
managing data collection activities.
Congratulations to the Niemann-Pick community on achieving this important
milestone.
Betsy Bogard
Associate Director, Program Management
Genzyme Corporation
500 Kendall Street, Cambridge, MA 02142
Representative Tom Todd’s is currently the chief sponsor of recently proposed House Bill 716, which was introduced in a Health Care Policy Committee meeting last week.
The bill establishes the Brady Alan Cunningham Newborn Screening Act, which will require, by July 1, 2010, the Department of Health and Senior Services to expand newborn screening requirements to include certain lysosomal storage diseases.
The department will be authorized to increase the current fee associated with newborn screening tests, in order to cover additional costs of the expanded newborn tests, according to Todd. Currently in Missouri, 67 disorders are screened, however, the bill will add five more disorders to the screening list.
According to Todd, the hospitals will not see anything different, as the blood drawn from your baby’s ankle after birth will not change in amounts. A drop of this same blood will be used for the new testing at the state lab.
Brady, the baby the bill is named after, is 10-months-old and lives with his parents in District 163. At birth, he appeared to be picture perfect, and continued to be the typical baby of every parent’s dream until the age of four months, according to the family. At that time, Brady started crying non-stop, not smiling, eating, and was no longer able to suck or swallow. One month after visiting the emergency room, Brady was diagnosed with leukodystrophy or Krabbe, a disease that destroys the central nervous system, according to Todd.
The life expectancy for children with this disease is about 13-14 months. Currently, Brady can still open his eyes and has some eye movement. He can still hear but eventually will lose both eyesight and hearing. Brady must receive his food through a feeding tube and is on Morphine and Ativan every four hours for pain. He also takes chloral hydrate at night in order to sleep.
Eventually respiratory complications will begin, according to doctors.
All of this could have been avoided if Missouri had the proposed bill in effect, according to Todd.
“A minimum of 10 children in Missouri are born each year with the five metabolic disorders addressed in House Bill 716, referred to as lysosomal storage disorders,” added Todd. These disorders can be invariably fatal if treatment is not instituted promptly. In the case of Krabbe disease, treatment is only effective if provided prior to the onset of any clinical symptoms. The hope for children with these disorders and the hope for their families is newborn screening, according to the state representative.
“I am hoping insurance companies will be on board with us,” Todd said. “I can’t imagine testing for $50 to not outweigh the costs incurred once the disease is allowed to progress.”
Todd added that it is important to remember that children will be born with these diseases whether or not there is medical screening. “They will continue to suffer and die if undiagnosed, but with early detection and effective treatment obtained, Krabbe disease no longer needs to bring death and despair to those who receive its diagnosis,” Todd said.
Image caption: Eleven-month old Brady Cunningham, of Campbell, Mo., recently passed away as a result of a rare, unscreened genetic disorder. Photo provided by Daily Dunklin Democrat
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