UP A Metabolic Disorder Affecting Amino Acid Metabolism Presentation

What We Know and What’s Next
Introduction:
Batten disease is a rare sickness caused by problems in our genes. This makes cells in our body collect stuff they shouldn’t,
which damages our brain and makes it hard for us to think and move. Gene therapy is a new way we might treat Batten
disease. It could help slow down the sickness by giving our cells the right instructions to work properly.
Finding Out If Someone Has Batten Disease:
Doctors use different things to figure out if someone has Batten disease. They ask questions about how the person feels,
check how their brain works, and look at their genes. At first, people might have trouble seeing, get seizures, find it tough to
move, and have problems thinking. Doctors use special tests to see if the person’s genes are causing Batten disease. They
usually need help from doctors who know a lot about the brain and genes.
Ways to Stop Batten Disease Before It Starts:
Until September 2021, there’s no sure way to stop Batten disease from happening. Because the disease comes from genes,
scientists think they could fix the genes to prevent it. But these ideas are still being tested and aren’t ready for regular use.
How Gene Therapy Might Help:
Gene therapy seems like a good way to treat Batten disease. This idea means putting the right kind of gene into a sick
person’s cells. This gene helps the cells make a protein that’s missing in people with Batten disease. Scientists are trying
different ways to put this gene into the cells, like using tiny things called viruses to carry the gene.
What We’ve Learned So Far:
Gene therapy for Batten disease is still being tested, but it’s going well. Tests on animals and a few people have shown good
results. But remember, it’s not a regular treatment yet. It’s only happening in special tests.
What Could Happen Next:
Gene therapy could be a great way to help people with Batten disease, but we’re still learning. Scientists are doing more
tests to make sure it’s safe and works well. They want to find the best way to put the gene in, so it keeps working for a long
time. They also need to be sure it won’t cause problems later on.
Remember, gene therapy is new, so there are things we still need to figure out. We need to make it better, let more people
try it, and make sure it’s easy for everyone to get. Scientists are working hard to make gene therapy a real treatment for
Batten disease.
References
(Here are some important papers and studies about gene therapy and Batten disease, but make sure to check for newer
information too.)
Kohn DB, et al. Gene therapy for genetic disorders: progress and challenges. Nat Rev Genet. 2019;20(2):82-101.
Wisniewski KE, et al. New directions in the treatment of neuronal ceroid lipofuscinosis. CNS Drugs. 2018;32(9):833-846.
Chan CH, et al. Gene Therapy Strategies for Neurodegeneration in Neuronal Ceroid Lipofuscinoses. Front Neurosci.
2021;15:662691.
(Be sure to look up newer research to get the latest information for your project.)
Module 8
Is the disease you are studying a heritable disease? Or influenced by epigenetic factors?
The disease I’m looking at is Type 2 Diabetes (T2D). While it’s not purely inherited like some
other diseases, it does tend to run in families. This means that if someone’s parents or close
relatives have diabetes, they might be more likely to get it too. Besides family history, things like
our environment and lifestyle also play a role. How our genes are affected by our lifestyle and
environment is called epigenetics.
If the disease you have selected is heritable, how does it affect the next generation?
For Type 2 Diabetes, it’s not directly passed from parents to children like some diseases. But, if
parents have diabetes, their kids might be more likely to develop it too. However, this isn’t set in
stone. What we eat and how active we are can change whether or not we actually get diabetes,
even if our parents had it.
Is the disease caused by failures at cell cycle checkpoints?
Type 2 Diabetes doesn’t happen because of problems with cell cycle checkpoints. Instead, it’s
about how our body handles a molecule called insulin. In diabetes, our body doesn’t use insulin
properly or doesn’t make enough of it. This affects how our cells use sugar for energy.
Is the risk for the disease associated with any lifestyle habits, other epigenetic factors, or other
diseases?
Yes, the chance of getting Type 2 Diabetes is linked to how we live, our genes’ interactions with
our lifestyle, and other conditions we might have. Things like eating unhealthy food, not being
active, being overweight, and even smoking can raise the risk. Also, how our genes work can be
changed by things like our lifestyle and environment. Conditions like certain types of pregnancy
diabetes or polycystic ovary syndrome (PCOS) can also make diabetes more likely.
References
American Diabetes Association. (2021). Standards of Medical Care in Diabetes. Diabetes Care,
44(Supplement 1), S15-S33.
Yechoor, V. K., & Patti, M. E. (2012). The Role of the ß Cell in Multifactorial Failure of the
Endocrine Pancreas. Journal of Clinical Investigation, 122(10), 3590–3593.
Ling, C., & Rönn, T. (2019). Epigenetics in human obesity and type 2 diabetes. Cell Metabolism,
29(5), 1028–1044.
Module 10
What genes play a role in the disease you’re studying? Do we know the gene sequence? Should
people get genetic tests for the disease?
Gestational diabetes is connected to genes that affect insulin, how the body responds to it, and
sugar control. These genes involve insulin signals, sugar transporters (GLUTs), and pancreas cell
function.
Though we know the specific gene sequences, gestational diabetes isn’t mainly caused by single
gene changes. Instead, it’s influenced by complex connections between genes and the
environment. So, using genetic tests for gestational diabetes isn’t commonly recommended.
For diseases that run-in families, how is it passed down? Is it linked to gender?
Gestational diabetes doesn’t mainly pass down like some other genetic diseases. It’s shaped by
genetics and the environment, especially during pregnancy. However, having a family history of
type 2 diabetes could raise the risk.
Does the disease come from gene changes or how genes are used? What kind of gene change is
it? Or how do gene changes lead to symptoms?
Specific gene changes don’t primarily cause gestational diabetes. Instead, it’s more about how
genes are used, especially when hormones change during pregnancy. Hormones from the
placenta can affect insulin, causing resistance and high blood sugar.
Gene use changes due to genetics, pregnancy hormones, and placental conditions. While not
typical gene “mutations,” there are changes in gene control that lead to symptoms.
Reference
Buchanan, T. A., & Xiang, A. H. (2005). Gestational diabetes mellitus. The Journal of Clinical
Investigation, 115(3), 485-491.
Kwak, S. H., & Park, K. S. (2015). Genetics of type 2 diabetes and potential clinical implications.
Archives of Pharmacal Research, 38(12), 2109-2121.
Lauenborg, J., Grarup, N., Damm, P., & Borch-Johnsen, K. (2004). Molecular pathophysiology of
gestational diabetes mellitus: lessons learned from genetic association studies. Diabetologia,
47(9), 1519-1533.

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