2018 / 16 February

Diseases associated with specific cell-organelles.


The cell is the basic unit with cell membrane that contains the fundamental molecules of life. All living things are composed of cells, and an organelle is a specialized subunit within a cell that has a specific function. Individual organelles are usually separately enclosed within their own lipid bilayers.

  • Cilia and Kartagener syndrome
    It’s a variant of primary ciliary dyskinesia consisting of bronchiectasis, situs inversus, and chronic sinusitis. Kartagener syndrome is caused by defects in the dynein arms of cilia, which make them unable to beat appropriately. Because embryonic cilia are also affected, body asymmetry is randomized such that 50% of patients with Kartagener syndrome will have situs inversus in addition to respiratory and sinusitis symptoms. The dilation of bronchial space leads to recurrent infections and productive sputum. Bronchiectasis develops over time; patients are not born with it.
  • Golgi body and I-cell disease
    Golgi disorders might result in malfunction of the secretory pathways, which package and secrete proteins synthesized in the rough endoplasmic reticulum, such as I-cell disease, also referred to as mucolipidosis II. It is caused by a failure of the Golgi body to properly phosphorylate and sort proteins, resulting in secretion of some proteins that would otherwise be destined for lysosomes. Patients with I-cell disease present with failure to thrive, skeletal abnormalities, and coarse facial features.
  • Lysosomes and Pompe Disease
    Lysosomes are membrane-bound organelles containing hydrolytic enzymes that break down cellular debris. α1,4-Glucosidase deficiency, a lysosomal storage disorder, is one of the causes of Pompe disease. Patients with this condition present with exercise intolerance and develop infantile hypertrophic cardiomyopathy.
  • Ribosomes and Treacher-Collins syndrome
    Ribosomes are involved in protein synthesis, which is fundamental to the survival of cells. Ribosomal dysfunction leads to severe deficits. Treacher-Collins syndrome, a ribosomopathy, presents with mandibular hypoplasia and facial abnormalities such as cleft palate. Patients with Diamond-Blackfan anemia, another ribosomopathy, present with macrocytic anemia and skeletal abnormalities.
  • Mitochondria and MELAS syndrome
    Because mitochondria are involved in adenosine triphosphate (ATP) generation by cells, mitochondrial disorders affect a cell’s ability to produce ATP. An example is MELAS syndrome, which presents with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Mitochondrial myopathy is another example of a mitochondrial disorder and often presents with myopathy, lactic acidosis, and central nervous system disease.
File:Mitochondrion structure.svg

Diagram of a mitochondrion. From Wikipedia.

References

  • Jackson CL, Behan L, Collins SA, Goggin PM, Adam EC, Coles JL, Evans HJ, Harris A, Lackie P, Packham S, Page A, Thompson J, Walker WT, Kuehni C, Lucas JS. Accuracy of diagnostic testing in primary ciliary dyskinesia. Eur. Respir. J. 2016 Mar;47(3):837-48.
  • Fretzayas A, Moustaki M. Clinical spectrum of primary ciliary dyskinesia in childhood. World J Clin Pediatr. 2016 Feb 8;5(1):57-62. doi: 10.5409/wjcp.v5.i1.57.
  • Milla PJ. I-cell disease. Archives of Disease in Childhood. 1978;53(6):513-515.
  • Dasouki M, Jawdat O, Almadhoun O, et al. Pompe Disease: Literature Review and Case Series. Neurologic clinics. 2014;32(3):751-ix. doi:10.1016/j.ncl.2014.04.010.
  • Nakhoul H, Ke J, Zhou X, Liao W, Zeng SX, Lu H. Ribosomopathies: Mechanisms of Disease. Clinical Medicine Insights: Blood Disorders. 2014;7:7-16. doi:10.4137/CMBD.S16952.
  • l-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12. doi: 10.1016/j.ymgme.2015.06.004.

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