Editorial on Neuronal Cholesterol Lipidosis

Thomas Benzing^*
*Correspondence: Thomas Benzing, Department of Molecular Biology, University of Helsinki, Finland, Email:

Introduction

A rare genetic illness called Niemann-Pick disease makes it difficult for the body to metabolise fat (cholesterol and lipids) inside of cells. These cells degenerate and finally pass away. Niemann-Pick disease can harm the brain, nerves, liver, spleen, bone marrow, and, in extreme cases, the lungs. The symptoms of this disorder are brought on by the progressive loss of brain, nerve, and other organ function. Although Niemann-Pick disease can affect people of any age, it mostly affects children. The condition can be deadly and has no recognised treatment.

Description

Although Niemann-Pick disease can affect people of any age, it mostly affects children. The illness is potentially deadly and has no known cure. Certain genes involved in fat metabolism are mutated to produce Niemann- Pick disease (cholesterol and lipids). Autosomal recessive inheritance is the method used to transmit the mutations in the Niemann-Pick gene from parents to offspring. This implies that in order for the child to be impacted, both the mother and the father must transmit the gene's faulty version [1-3].

There is no treatment for Niemann-Pick disease, which is incurable. At any age, it can occur. Sphingomyelinase is an enzyme that is either absent or defective in Types A and B, resulting in these conditions. Fat builds up in cells as a result of the body's impaired capacity to metabolise fat (cholesterol and lipids). Cellular malfunction and ultimately cell death occur from this. Infants with severe, progressing brain diseases, such as Type A, are most commonly affected. Most children do not survive their first few years since there is no cure. Type B typically appears later in life and has no connection to fundamental brain disorders. The majority of type B patients survive into adulthood. An very uncommon genetic disease is Niemann-Pick type C [4,5].

A rare genetic illness called Niemann-Pick disease makes it difficult for the body to metabolise fat (cholesterol and lipids) inside of cells. These cells degenerate and finally pass away. Niemann-Pick disease can harm the brain, nerves, liver, spleen, bone marrow, and, in extreme cases, the lungs. The symptoms of this disorder are brought on by the progressive loss of brain, nerve, and other organ function. Although Niemann-Pick disease can affect people of any age, it mostly affects children. The illness is potentially deadly and has no known cure. The goal of treatment is to help individuals manage their symptoms.

Conclusion

Niemann-Pick disease is identified by its signs and symptoms of clumsiness and trouble walking. Niemann-Pick disease also manifests as excessive eye movements or dystonic muscular contractions. difficulty swallowing and eating, disturbed sleep, pneumonia that persists The three primary Niemann- Pick types are types A, B, and C. Depending on your condition's kind and severity, your signs and symptoms will change. Within the first several months of life, some infants will display signs and symptoms. Patients with type B have a better chance of surviving to adulthood and may not have symptoms for years. Until they are adults, people with type C may not show any symptoms. Certain genes involved in fat metabolism are mutated to produce Niemann- Pick disease (cholesterol and lipids). Autosomal recessive inheritance is the method used to transmit the mutations in the Niemann-Pick gene from parents to offspring. Accordingly, both the mother and the father must pass on the gene's faulty version for the child to be impacted. There is no treatment for Niemann-Pick disease, which is incurable. At any age, it can occur.

Conflict of Interest

None.

References

1. Mayer P., J.L. Pépin, G. Bettega and D. Veale, et al. "Relationship between body mass index, age and upper airway measurements in snorers and sleep apnoea patients."Eur Respir J 9 (1996): 1801-1809.

Google Scholar

2. Ward, Richard A., Bärbel Schmidt, Jeannine Hullin and Günther F. Hillebrand, et al. "A comparison of on-line hemodiafiltration and high-flux hemodialysis: A prospective clinical study." J Am Soc Nephrol 11 (2000): 2344-2350.

Google Scholar, Crossref, Indexed at

3. Semenza, Gregg L., and Reed E. Pyeritz. "Respiratory complications of mucopolysaccharide storage disorders."Med67 (1988): 209-219.

Google Scholar, Crossref, Indexed at

4. Delanaye, Pierre, Bernard E. Dubois, François Jouret and Jean-Marie Krzesinski, et al. "Parathormone and bone-specific alkaline phosphatase for the follow-up of bone turnover in hemodialysis patients: Is it so simple?." Clin Chim Acta 417 (2013): 35-38.

Google Scholar, Crossref, Indexed at

5. Phan, T. C. A., Jiake Xu and M. H. Zheng. "Interaction between osteoblast and osteoclast: Impact in bone disease." Histol Histopathol 19(2004).

Google Scholar, Crossref, Indexed at