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AkumaHunter 22 views 9 slides Aug 27, 2024
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About This Presentation

Artificial intelligence (AI) is rapidly advancing and becoming more integrated into our daily lives. As AI technologies like chatbots, virtual assistants, and language models become more sophisticated, they are increasingly being used by students for assistance with schoolwork, writing, research, an...


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DIFFERENT DISORDERS ASSOCIATED WITH DIFFERENT ORGANELLES OF THE CELL

Lysosomal Storage Diseases (LSDs) Overview and Information

Lysosomal Storage Diseases Lysosomal storage diseases (LSDs) are a group of rare genetic disorders that affect the body's ability to break down and recycle certain substances. These substances accumulate in the lysosomes, which are small sacs within cells that contain enzymes responsible for breaking down waste materials. As a result, LSDs can cause a wide range of symptoms, including developmental delays, organ damage, and neurological problems.

Lysosomal Storage Diseases Lysosomal storage diseases (LSDs) are diseases caused by defects in single-genes. Enzyme defects cause nearly seventy percent of the LSDs, and the rest are defects in enzyme activator or associated proteins. A gene on a particular chromosome locus transcribes a particular enzyme improper enzyme-coding results in inactive enzymes.

CAUSES AND SYMPTOMS The majority of the lysosomal storage diseases (LSDs) are caused by mutations in the genes encoding a lysosomal enzyme. These monogenic disorders involve forty different acid hydrolases in the lysosomes. Genes with a specific chromosomal locus encode them. Many types of mutations can produce a defective enzyme.

Neurological Symptoms Often neurologic signs include cerebellar ataxia, and encephalopathy. Cerebellar signs are often the first sign of storage diseases because of the complex integration of the fast conducting sensory and motor pathways. Balance and movement problems (affected first) Poor movement of hands, arms, and legs. Slurring of speech. Wide-based gait when walking. Trouble writing and eating. Slow eye movements.

Treatment Options Though there isn't a cure for lysosomal storage disorders, a few treatments can help. Enzyme replacement therapy delivers the missing enzyme through a vein. Substrate reduction therapy reduces the substance that is building up in the cells. Lysosomal storage diseases are believed to have an estimated frequency of about one in every 5,000 live births. boys are more prone due to having only one X chromosome.

Preventing Lysosomal Storage Diseases Currently, there is no way to prevent LSDs directly, as they are caused by genetic mutations that cannot be prevented. However, there are strategies that can help reduce the risk of passing on these disorders to future generations. But experts implies Genetic testing, Genetic testing can identify individuals who carry a mutated gene for an LSD. This information can help couples make informed decisions about family planning, such as choosing to have preimplantation genetic diagnosis (PGD) or considering adoption.

Conclusion Preventing LSDs is a complex challenge that requires a multifaceted approach. While there is no cure for these disorders, genetic counseling, testing, and PGD offer valuable tools for reducing the risk of passing them on to future generations. Continued research into new prevention strategies, such as gene therapy, holds promise for improving the lives of individuals affected by LSDs.
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