×

UPSC Courses

DNA banner

DAILY NEWS ANALYSIS

  • 29 April, 2021

  • 3 Min Read

Odisha’s first case of harlequin ichthyosis

Odisha’s first case of harlequin ichthyosis

WHY?

Mutations in the ABCA 12 gene are stated to cause harlequin ichthyosis. The ABCA12 protein plays a major role in transporting fats in cells which make up the outermost layer of skin. Severe mutations in the gene lead to the absence or partial production of the ABCA12 protein. This results in lack of lipid transport and as a result, the skin development is affected by varying degrees according to the severity of the mutation, a doctor said citing a research paper on the disease.

Condition: The facial features of the baby, including the mouth, eyes and ears were deformed, restricting breathing and eating. The disease affected one in three million births and is caused due to a mutated gene inherited from the parents. The disease sees the skin form large diamond-shaped plates across the body that are separated by deep cracks (fissures). The skin is dry and scaly, almost like fish skin and hence the term ‘icthyosis’, derived from ‘ikthus’, Greek for fish.

Imp Points:

  • Odisha reported its first-ever case of a baby born with harlequin ichthyosis in Ganjam district. India’s first case was recorded in Nagpur, Maharashtra in 2016.
  • The disease is an extremely rare genetic disorder that resulted in thickened skin forming over nearly the entire body at birth.
  • Causes - The disease is caused due to mutations in the ABCA 12 gene (a mutated gene inherited from the parents).
  • The ABCA12 protein plays a major role in transporting fats in cells which make up the outermost layer of skin.
  • Severe mutations in the gene lead to the absence or partial production of the ABCA12 protein, which results in lack of lipid transport.

Occurrence - The disease affects one in three million births. There are around 200 to 250 such cases across the world. India’s first recorded case of a baby born with harlequin ichthyosis was in 2016, at a private hospital in Nagpur, Maharashtra. Such cases were also reported in Delhi, Patna and West Bengal.

Source: DTE


Soil Mapping

Soil Mapping In order to use fertilisers more effectively, the Food and Agriculture Organization (FAO) recently launched a project to digitally map soil nutrients in sub-Saharan Africa (SSA) and central America. Additionally, it will arrange and enhance current soil maps. About soil mapping Soil Mapping is the process of delineating na

New START Treaty

New START Treaty Recently, due to western sanctions, Russia halted inspections under the new START treaty. About New START Treaty The New START treaty, signed in 2010 by President Barack Obama and Russian President Dmitry Medvedev, limits each country to no more than 1,550 deployed nuclear warheads and 700 deployed missiles and bombers,

Palestine - Israel Ceasefire

Palestine - Israel Ceasefire Recently, there was a ceasefire between Israel and Palestine following three days of fighting that claimed the lives of hundreds of people in both nations. Tensions between Palestinians and Israeli police erupted at Jerusalem's al-Aqsa Mosque earlier this year as well. Recent conflict Since Israe

India’s Tourism Market

India’s Tourism Market In 2024, India's outbound tourism will exceed USD 42 billion, according to a report recently published under the title "Outbound Travel and Tourism - An Opportunity Untapped.", released by Nangia Andersen LLP in association with FICCI. Traveling "outside" of one's native country for tou

Food Processing Sector

Food Processing Sector The government's recent efforts to help the food processing sector were recently detailed in a written response to the Rajya Sabha Minister of State (Food Processing Industries). Present status of the food sector in India A type of manufacturing called food processing uses science and technology to transform

Toppers

Search By Date

Newsletter Subscription
SMS Alerts