Skip to main content

Gene causing rare disease found in south Indian woman

Doctors and scientists at a hospital Chennai have reported the very first occurrence of a rare disease, Haim-Munk Syndrome (HMS) — found only among specific Jewish populations — in a woman of Dravidian descent. Genetic analysis has identified the same gene mutation as the causative factor
The finding was reported in the recent issue of the European Journal of Dentistry . Aswath N. Swamikannu B., Ramakrishnan S.N., Shamnugam R., Thomas J., and Arvind Ramanathan, present the case in a paper.
One of the authors, Arvind Ramanathan, who is also Principal Investigator, Human Genetics Laboratory, Sree Balaji Medical and Dental College and Hospital, explains: “Also known as Cochin Jewish disorder, the HMS was first reported among members of a small Jewish community where consanguinity was prevalent, from Cochin in Kerala. Beyond that, there is no record of the HMS being reported in any other ethnicity or population. This is the first time that we have found the condition in the South Indian Dravidian population, and it is interesting to note that it is the same genetic mutation (in Cathepsin C gene) that has caused it.”
The patient, a 23 year-old South Indian woman, showed some symptoms of HMS, though not all, but they were fairly well developed to arrive at a conclusive diagnosis, he adds. She had recurrent skin infections, periodontitis (inflammation that damages the gum and soft bone that support teeth), loss of teeth, and nails resembling claws.
“She had not been diagnosed earlier. When we read the premature loss of teeth with some of her other symptoms, the diagnosis became clear: HMS. A genetic test further confirmed it.”
Genetic tests are available to test for HMS, and the advantage of detecting it early is to be able to alleviate the symptoms and strengthen the bone and jaws, he adds. A task force has been set up at the college that includes members from other colleges and hospitals to record the incidence in Tamil Nadu and to move on to genetic diagnosis.
Haim-Munk Syndrome has been reported only in specific Jewish populations


Popular posts from this blog

SC asks Centre to strike a balance on Rohingya issue (.hindu)

Supreme Court orally indicates that the government should not deport Rohingya “now” as the Centre prevails over it to not record any such views in its formal order, citing “international ramifications”.

The Supreme Court on Friday came close to ordering the government not to deport the Rohingya.

It finally settled on merely observing that a balance should be struck between humanitarian concern for the community and the country's national security and economic interests.

The court was hearing a bunch of petitions, one filed by persons within the Rohingya community, against a proposed move to deport over 40,000 Rohingya refugees. A three-judge Bench, led by Chief Justice of India Dipak Misra, began by orally indicating that the government should not deport Rohingya “now”, but the government prevailed on the court to not pass any formal order, citing “international ramifications”. With this, the status quo continues even though the court gave the community liberty to approach it in …

Khar’s experimentation with Himalayan nettle brings recognition (downtoearth)

Nature never fails to surprise us. In many parts of the world, natural resources are the only source of livelihood opportunities available to people. They can be in the form of wild shrubs like Daphne papyracea and Daphne bholua (paper plant) that are used to make paper or Gossypium spp (cotton) that forms the backbone of the textile industry.

Nothing can compete with the dynamism of biological resources. Recently, Girardinia diversifolia (Himalayan nettle), a fibre-yielding plant, has become an important livelihood option for people living in the remote mountainous villages of the Hindu Kush Himalaya.

There is a community in Khar, a hamlet in Darchula district in far-western Nepal, which produces fabrics from Himalayan nettle. The fabric and the things made from it are sold in local as well as national and international markets as high-end products.

A Himalayan nettle value chain development initiative implemented by the Kailash Sacred Landscape Conservation and Development Initiati…

India’s criminal wastage: over 10 million works under MGNREGA incomplete or abandoned (hindu)

In the last three and half years, the rate of work completion under the Mahatma Gandhi National Rural Employment Guarantee Act (MGNREGA) has drastically declined, leading to wastage of public money and leaving villages more prone to drought. This could also be a reason for people moving out of the programme.

At a time when more than one-third of India’s districts are reeling under a drought-like situation due to deficit rainfall, here comes another bad news. The works started under the MGNREGA—close to 80 per cent related to water conservation, irrigation and land development—are increasingly not being completed or in practice, abandoned.

Going by the data (as on October 12) in the Ministry of Rural Development’s website, which tracks progress of MGNREGA through a comprehensive MIS, 10.4 million works have not been completed since April 2014. In the last three and half years, 39.7 million works were started under the programme. Going by the stipulation under the programme, close to 7…