Oculocutaneous Albinism & Cutaneous Malignant Tumors

Middle East Journal of Applied Science & Technology (MEJAST), Volume 2, Issue 3, Pages 95-102, July-September 2019

8 Pages Posted: 10 Sep 2019

See all articles by Muhammad Fakhar Iqbal Fareedi

Muhammad Fakhar Iqbal Fareedi

Bahauddin Zakariya University - Institute of Management Sciences (IMS)

Muhammad Arif Saleem

Bahauddin Zakariya University - Institute of Molecular Biology and Biotechnology

Sumaira Bibi

Bahauddin Zakariya University - Institute of Molecular Biology and Biotechnology

Muhammad Ali Saeed

Bahria University - Bahria University, Islamabad

Muhammad Asif Raheem

Bahauddin Zakariya University - Institute of Management Sciences (IMS)

Multiple version iconThere are 2 versions of this paper

Date Written: August 30, 2019

Abstract

Albinism is a genetically inherited disorder characterized by hypopigmentation of the skin, hair, and eyes due to a reduced or lack of cutaneous melanin pigment production. The mode of inheritance of albinism is thought to vary, depending on the type. The oculocutaneous type is considered autosomal recessive, and the ocular variant sex-linked. Oculocutaneous albinism exists in four forms. One form involves the tyrosinase gene (OCA1), whereas the other form (OCA2) has recently been associated with alterations of the P gene on chromosome 15. There are five types of OCA; of these OCA1 and OCA2 are by far the most frequent types. OCA type 1 (OCA1) occurs with a frequency of about 1/40000 worldwide. (SCC) carcinomas and malignant melanoma (MM)—and collectively they represent the commonest cancers of humans, with intense exposures (especially in early life) and chronic exposures being linked to MM and SCC/BCC, respectively. Globally, variation in skin pigmentation (measured by the proxy of reflectance) in indigenous populations correlates strongly with levels of UVR exposure quantified by satellite measurements, which in turn correlates strongly with latitude. As most persons with severe forms of OCA are very prone to sunburn, the progenitor basal cell keratinocytes of sun-exposed skin of albinos are at great risk of undergoing sunlight-induced malignant transformation. SCCS in albinos can arise de novo or from premalignant actinic lesions such as sunlight keratosis, in which the keratinocytes have already undergone a sunlight-induced initial transformation. Sunlight regularly causes these genetic alterations that are referred to as UVR-associated ―signature mutation and these signature mutations drive the malignant transformation of sunlight-induced SCCS [36, 38]. Initially transformed keratinocytes are immunogenic and thus generate immune responses which can modulate or control tumourigenesis, but sunlight-induced immunosuppression may critically interfere with this protective mechanism.

Suggested Citation

Fareedi, Muhammad Fakhar Iqbal and Saleem, Muhammad Arif and Bibi, Sumaira and Saeed, Muhammad Ali and Raheem, Muhammad Asif, Oculocutaneous Albinism & Cutaneous Malignant Tumors (August 30, 2019). Middle East Journal of Applied Science & Technology (MEJAST), Volume 2, Issue 3, Pages 95-102, July-September 2019, Available at SSRN: https://ssrn.com/abstract=3446372

Muhammad Fakhar Iqbal Fareedi

Bahauddin Zakariya University - Institute of Management Sciences (IMS) ( email )

1-A, E-5, Phase VII
Hayatabad
Multan, Khyber Pakhtunkhwa 25000
Pakistan

Muhammad Arif Saleem (Contact Author)

Bahauddin Zakariya University - Institute of Molecular Biology and Biotechnology ( email )

Multan, 60880
Pakistan

Sumaira Bibi

Bahauddin Zakariya University - Institute of Molecular Biology and Biotechnology ( email )

Multan, 60880
Pakistan

Muhammad Ali Saeed

Bahria University - Bahria University, Islamabad

Islamabad
Pakistan

Muhammad Asif Raheem

Bahauddin Zakariya University - Institute of Management Sciences (IMS) ( email )

1-A, E-5, Phase VII
Hayatabad
Multan, Khyber Pakhtunkhwa 25000
Pakistan

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