Cytoskeletal and Organellar Disease

ORGANELLAR AND CYTOSKELETAL

Organellar and Cytoskeletal Disease

One of the human cellular organelle disorders or diseases are known to the world is Cilia and Kartagener syndrome. It is a rare syndrome that occurs within the body with chronic sinusitis, situs inversus, and bronchiectasis (Mishra et al., 2012). The problem arises when the general movement of cilia is troublesome genetically due to its autosomal recessive genetic functioning. The patients have to suffer from chest infections, severe nose/throat/ear symptoms, and infertility.

Kartagener’s syndrome, also known as primary ciliary dyskinesia (PCD), shows an abnormal defect in the functioning of cilia. The symptoms include outer dynein arms, inner dynein arms, and sometimes even both when the problem occurs in 90% of the patients (Mishra et al., 2012). 38% of the patients have been investigated to carry mutations of dynein genes called DNAI and DNAH5. As mentioned earlier, the specific condition inculcates the buildups of secretions that result in frequent sinusitis, infertility, and bronchiectasis. It depends on the age when the symptoms are identified since sometimes the signs are present from childhood and never noticed. As the illness causes troubles in breathing due to its connection with the pulmonary system, the reversible airflow and its obstruction are a part of the syndrome. Clinically, the progression of the disease varies in each patient depending on the severity with which it hits the lungs and the fertility system, which in some cases, leads to lung transplant as well.

Cilia and flagella are ancient organelles that have evolved in their structure and functions as the human immune systems have changed with their environments (Leigh et al., 2009). Previously, they were known for their key role in cell motility and fluid transportation within the body over mucosal surfaces. The sensory functioning occurs through cilia that help in nose system regulation and breathing. The motile and sensory cilia are made of highly prearranged and systematic arrays of microtubes and associated accessory elements. The prearranged helical patterns of protofilaments are the marked symbols of ? and ? -monomers of tubulin configurations within the microtubes. The production of a single primary cilium is done by almost all the cilium cells; however, in various populations, they could be diverse for nonmotile primary cilia and specialized motile cells that are present in nodal cells.

The most common mutations could be diagnosed with molecular genetic testing for the initial stages of PCD. Such diagnosis shows the impaired axonemal structures due to defective mucociliary clearance. In 80% of the cases, it has been recognized that defective dynein arms in the ciliary ultrastructural analysis are visible along with other faults in axonemal constituents (Leigh et al., 2009). Other 50% of the cases showed laterality deficits encompassing congenital heart diseases, heterotaxy, and situs inversus totalis (Leigh et al., 2009).

For providing suitable treatment to the patient, high urgency for the diagnosis and detection at an early stage is recommended so that infertility in later stages of life could be avoided (Mishra et al., 2012). It is even more mandatory for sustaining the healthy pulmonary functioning of humans throughout life, which is only possible at early detection of the disease. Quality of life and life expectancy are more heavily dependent upon its successful diagnosis to prevent the severity of symptoms (Gupta et al., 2012).

The diagnosis process includes a picture of the chest for detecting chest infections, their severity, nature, the status of bronchitis and rhinitis becoming evident since childhood (Mishra et al., 2012). The prevalence of situs inversus in parents or siblings has to be known as a part of family history knowledge to recognize the probability of genetic inheritance. Also, the condition of liveliness and immobility is to be perceived on time. The reduction or absence of transbronchial mucociliary clearance is discovered along with cilia characteristics in ultrasound and electron microscopy (Mishra et al., 2012).