A severe case of CCCA over a period of time. Images: Supplied/UKZN
  • The discovery of a gene linked to hair loss is a world first.
  • The gene has huge implications for early diagnosis, prevention and therapy.
  • It may be triggered by the use of chemicals, traction, heat, braids and weaves.

A South African dermatologist has helped discover a new gene, that may well be the root cause of permanent hair loss in women of African decent.

The Dean of Clinical Medicine at the University of KwaZulu-Natal, Professor Ncoza Dlova, along with her team of scientists, conducted an extensive study of several patients with Central Centrifugal Cicatricial Alopecia (CCCA), from 2013 to 2017.

Patients were recruited from Durban, South Africa, and Winston-Salem, North Carolina.

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. It causes destruction of the hair follicles leading to scarring and permanent hair loss. 

In May last year, American actress Jada Pinkett Smith opened up about her battle with hair loss in an episode of her Facebook Watch talk show Red Table Talk. Pinkett Smith recalled the "terrifying" moment she first noticed she was losing "handfuls of hair" in the shower. Despite numerous medical tests, Pinkett Smith wasn't able to find the cause of her alopecia.

The ground-breaking study was recently published in the prestigious New England Journal of Medicine.

In a statement issued by the university, Dlova said, “This 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 five years, and seven years later a gene has been identified. 

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

The study, titled Variant PAD13 in Central Centrifugal Cicatricial Alopecia, found that the gene – peptidylarginine deiminase 3 (PAD13), which helps mature proteins for proper hair shaft growth, was mutated in most of the affected patients suggesting that the disease is genetically heterogenous.

Scientists also found that the distinct variants in PAD13 in each of the disorders may account for the difference in clinical outcomes.

Research suggests that PAD13 mutations predispose individuals to CCCA and this presents or is triggered by environmental factors, like damaging hair grooming practices – the use of chemicals, traction, heat, braids and weaves.

This implies that in affected families, the above-mentioned practices should be totally discouraged. Larger studies are still needed in order to justify genotyping of asymptomatic women.

For more, go to Business Insider South Africa.

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