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Pakistan Faces Genetic Disasters
Cultural practices are precipitating inherited disorders
Bright B. Simons (baronsimon)     Print Article 
Published 2006-10-06 08:29 (KST)   
The "rat-people" of Shah Dola were, according to the myths, the beloved of Allah.

Born to the mothers only because the saint of the shrine had opened their barren wombs, these small-headed ones, first-born among their mothers' children, were therefore to serve the saint all their earthly days. As guardians of sandals left behind in the courtyard so the faithful may not soil the prayer chamber, or in some other role suited to their limited strengths, they pass their hours in the vicinity of the shrine rarely ever wandering beyond.

But in this era or modernity legend no longer allay curiosity, so a new account had to emerge: the "rat-people" were the hapless victims of cruel, money-obsessed, criminal gangs. They steal, or buy at a pittance, from destitute mothers young fragile infants, and by a macabre ingenuity with metal implements deform the skulls of the unfortunate sucklings, so that in years to come they can be enslaved as beggars, too hopelessly mentally retarded to deserve or demand a share of whatever crumbs charitable by-passers may toss their way.

Recent research suggests however that even this more "modern" explanation may fall short of accuracy. A new answer has been invoked by modern science for the riddle of Shah Dola: genetics. The "rat-people" whether around the shrine of Shah Dola, in the dusty corridor between Islamabad and Lahore, or indeed elsewhere in Pakistan, are simply sufferers from a condition known as microcephaly, in which the human brain fails after the sixth month or so to develop to its full potential.

When in 2002, researchers from the U.S. National Human Genome Research Institute (NHGRI) identified the genetic basis for the recurrent incidence of microcephaly in the Amish community (now more known around the world for the recent massacre by a lone gunman of five young girls) of Pennsylvania, the connection to the Pakistani cases was already well evident, yet rival explanations, like those above for instance, refused to yield.

But in the same year two trends were reinforcing each other to lend more credence to the genetic account; research in Pakistan was yielding some interesting results by identifying crucial genes involved, and evidence from a number of British Midlands' hospitals was clearly suggesting that even families of Pakistani descent who have never been resident in Pakistan showed a higher inclination than the general public to record microcephaliac births.

Then in May of this year, six Pakistani researchers published a paper in the Journal of Human Genetics detailing a study of 33 Pakistani families from multiple ethnic backgrounds in which additional mutations seemed to be involved.

It is now beyond doubt that the root of the microchephaly condition is in the genes. But why is Pakistan recording such a high incidence, and even more bizarrely why are Pakistani communities abroad similarly prone to the condition?

The clues are actually to be found in what has already been discussed. Firstly, looking at the two entirely distinct communities mentioned in this article, the Amish and Pakistanis, one is struck by similarities in the way rather rigid cultural institutions influence family structure, and this point will be discussed further. Secondly, the chief attributes that Pakistani diasporas in Europe and the United States share with traditional communities in the Homeland are also culturally defined. And thirdly, the nature of transmission from parent to offspring of the genetic root causes of microcephaly itself provides strong illumination.

All three points are in actual fact inter-related, as hinted, by marriage practices. Amish tend to marry within the family: third and fourth cousins predominantly. Pakistanis, whether at home or abroad, usually favor first and second cousins.

Microcephaly is what, in the genetic trade, is referred to as an "autosomal recessive disorder," or simply as a genetic disorder due to recessive mutation. The biological details are complex but their main features are easily simplified.

Our genes are packaged in long twists known as chromosomes which are in turn embedded in the core of our body cells -- the nucleus. All human cells contain 23 pairs of chromosomes, or 46 individual chromosomes in all. 22 pairs of these chromosomes are called "autosomes," and the last pair, which determines gender, goes by the description "sex chromosomes." The condition is called "autosomal" because it is transferred through mutations in the non-sex chromosomes. The "recessive" tag means that unless you inherit two sets of mutations (or defective genes) the condition is not expressed physiologically (or outwardly).

Thus, marrying within the family carries an increased risk of offspring contracting disorders due to recessive mutations. And disorders of such nature are not limited to microcephaly; some go by frightening names such as "familial amaurotic idiocy," "xeroderma pigmentosa" and "endemic goitrous cretinism."

Sure, but why is Pakistan in any greater trouble then than all the other communities across the globe where intra-family marriage (consanguinity) is common? Certainly, certain orthodox Jewish communities, the Amish, a number of Middle-Eastern tribes and certain clans in southeast Africa all tolerate, or even promote, consanguinity. What however distinguishes Pakistan is the sheer prevalence of the practice. Worldwide, the rate of consanguinity amongst tolerant communities is less than 29 percent; in Pakistan it is a whopping 60 percent!

But there is another fear, and that is that cousin-marriage is shielding an even more invidious practice: incest. Marriages arranged within a single family disposes of some of the external checks and inhibitions that may protect the younger generation from the unnatural affections of older males or, in a few instances, females in the same family. Unfortunately, the extent of this activity is shrouded in secrecy as Pakistani society's capacity for self-introspection continue to diminish for a variety of factors, some political, others religious.

In April 2005, the Pakistan Press Foundation in its quarterly press freedom described an attack on the offices of two independent media houses: Geo Television and Jang Newspapers by unknown assailants the previous January. The report further said that a message from the assailants a day after the attack had explained the motive behind the acts of vandalism as a reaction to a television program: "Uljhan Suljahn" in which the night before the issue of incest had been discussed.

There is thus little hope that a serious public discussion will be had anytime soon in Pakistan about the high incidence of intra-family sexual behavior despite the urgency of the situation. With fast-paced industrialization on the Indian sub-continent will come severe pollution, which in turn is, widely suspected as, a major cause of mutations. Luckily most mutations are recessive so observing simple injunctions against intra-family marriages will considerably curtail the risks of genetic epidemics.

Some very entrenched social and socioeconomic realities however stand in the way of a mass adoption of such proscriptions across Pakistan. Marrying in the family is in many ways a social risk-management issue. Inheritance is kept within the confines of the family; clan solidarity, which is vital in a political system marked by patronage, is enhanced; and it provides an even stronger motivation for agrarian societies to bind to their land.

So it will appear socio-economics is arrayed against genetics; in the fashion of all great systemic confrontations, something has to give.
©2006 OhmyNews
Other articles by reporter Bright B. Simons

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