Gene linked to hair loss in African women

Patients with Central Centrifugal Cicatricial Alopeciawere recruited from Durban, from 2013 to 2016 and in Winston-Salem, North Carolina, from 2014 to 2017. Pic: Supplied

Patients with Central Centrifugal Cicatricial Alopeciawere recruited from Durban, from 2013 to 2016 and in Winston-Salem, North Carolina, from 2014 to 2017. Pic: Supplied

Published Apr 2, 2019

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Professor Ncoza Dlova, Dean of UKZN’s School of Clinical Medicine and internationally renowned dermatologist, through her global collaborative work with a number of scientists; has identified a new gene that is a major cause of permanent hair loss amongst women of African descent. 

They discovered the root cause of Central Centrifugal Cicatricial Alopecia (CCCA), one of the most common causes of scarring alopecia amongst African women.

This ground-breaking study, titled: ‘Variant PAD13 in Central Centrifugal Cicatricial Alopecia’ was published recently in the New England Journal of Medicine, one of the highest impact journals in medical science.

Patients with CCCA were recruited from Durban, from 2013 to 2016 and in Winston-Salem, North Carolina, from 2014 to 2017. 

CCCA is defined as hair loss or spot balding that starts from the central (crown) part of the scalp and radiates outward in a circular pattern. CCCA causes destruction of the hair follicles leading to scarring and permanent hair loss.

It is very common amongst women of African descent. The root cause of this condition has always been elusive and alluded to the use of damaging chemical products on the hair as well as the application of heat brushes, hot combs or straighteners. 

It has often been confused with female pattern hair loss or common baldness which is a completely different entity.

This study found that the gene, peptidylarginine deiminase 3, (PAD13); which mediates posttranslational modification of proteins essential for proper hair shaft 2 formation was mutated in the majority of affected patients suggesting that the disease is genetically heterogeneous.

So what can we learn from these research findings? 

The results suggests that PADI3 mutations predispose individuals to CCCA and this presents or is triggered by environmental factors like damaging

hair grooming practices like use of hair chemicals, traction, heat , braids and weaves.

This implies that in affected families, the above mentioned practices should be totally discouraged.

Commenting on this exciting finding, Dlova said:

‘T his is probably the biggest  breakthrough in South African Dermatology. This discovery is a first in the world, and it followed links to my earlier publication of 2013, in which I reported for the first time a familial association in a cluster of black South African families with CCCA and have been following the 15 families for 5 years, and 7yrs later a gene has been identified.

This has huge implications on early diagnosis, prevention and possible future targeted therapy of CCCA.’

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