Tea at Trianon: Mutations in the Autism Gene

John Wilson Croker on Marie-Antoinette

"We have followed the history of Marie Antoinette with the greatest diligence and scrupulosity. We have lived in those times. We have talked with some of her friends and some of her enemies; we have read, certainly not all, but hundreds of the libels written against her; and we have, in short, examined her life with– if we may be allowed to say so of ourselves– something of the accuracy of contemporaries, the diligence of inquirers, and the impartiality of historians, all combined; and we feel it our duty to declare, in as a solemn a manner as literature admits of, our well-matured opinion that every reproach against the morals of the queen was a gross calumny– that she was, as we have said, one of the purest of human beings."

~from History of the Guillotine by John Wilson Croker, 1844

Edmund Burke on Marie-Antoinette

"It is now sixteen or seventeen years since I saw the queen of France, then dauphiness, at Versailles; and surely there never lighted on this orb, which she hardly seemed to touch, a more delightful vision. I saw her just above the horizon, decorating and cheering the elevated sphere she had just begun to move in, glittering like a morning star full of life and splendor and joy. Oh, what a revolution....Little did I dream that I should have lived to see such disasters fall upon her, in a nation of gallant men, in a nation of men of honor and of cavaliers! I thought ten thousand swords must have leaped from their scabbards, to avenge even a look which threatened her with insult. But the age of chivalry is gone; that of sophisters, economists, and calculators has succeeded...."

~Edmund Burke, October 1790

Thursday, May 7, 2020

Mutations in the Autism Gene

From Spectrum:

Individuals with mutations in a gene called TRIO may have a range of conditions, including varying degrees of intellectual disability and anomalous head size, a new study has found¹. The expression of those traits depends on where in the gene the mutation lies. The work fills the gap between clinical observations and genetic tests to show how different mutations in the gene track with distinct sets of traits. TRIO controls the growth and migration of neurons in the brain. Previous research has linked rare TRIO mutations to autism and autism-like behaviors.

In the new study, an international team of researchers identified 24 people aged 3 to 40 who have mutations in TRIO. They sequenced the exomes — the protein-coding portions of the genome — of these people and found that many of the mutations cluster in two domains of the gene. Clinical observations linked distinct sets of physical and cognitive traits to each domain. “We realized that actually that particular gene caused probably two disorders, depending on where the gene fault lay,” says Diana Baralle, professor of genomic medicine at the University of Southampton in the United Kingdom, who co-led the study. One group has mutations in a domain called GEFD1. These individuals have an unusually small head — microcephaly — and generally have mild intellectual disability. Some have children and live independently or with some support from their families. (Read more.)