Wednesday, January 30, 2008

FMR4 - New Gene Link to Fragile X and Autism

The Autism Knowledge Revolution is continuing at such an explosive pace that it barely makes the news when an important new research development provides new insights into the biological structures and process of autism disorder. More of the genes associated with autism and related conditions, Fragile X, in the report that follows, are becoming known. At times it seems on a daily basis.

PLoS ONE has published a report - A Novel RNA Transcript with Antiapoptotic Function Is Silenced in Fragile X Syndrome of a study by researchers Ahmad M. Khalil, Mohammad Ali Faghihi, Farzaneh Modarresi, Shaun P. Brothers, Claes Wahlestedt of the Molecular and Integrative Neurosciences Department (MIND), The Scripps Research Institute, Jupiter, Florida which identifies a new gene FMR4 involved with Fragile X syndrome and potentially many cases of autism.

In New Gene Linked To Fragile X Syndrome -- Suggests Potential Targets For Autism And Other Neurological Disorders Science Daily translates from science into layperson the article published in PLoS ONE :

ScienceDaily (Jan. 30, 2008) — Scientists at The Scripps Research Institute have discovered a new gene involved in fragile X syndrome, a condition that often shares many symptoms of autism. The discovery may lead to new tests or treatments for several neurological disorders.


Fragile X syndrome affects thousands of patients worldwide with severe learning disabilities, often accompanied by anxiety disorders, obsessive-compulsive behavior, and attention deficit hyperactivity disorder. There are currently no therapeutic treatments available for fragile X syndrome. Approximately one-third of all children diagnosed with fragile X syndrome also have some degree of autism, according to The National Fragile X Foundation, including such behaviors as social anxiety, poor eye contact, and hand biting.

More than 16 years ago, scientists linked fragile X syndrome to inactivation of FMR1 gene expression, leading to the lack of a protein known as the fragile X mental retardation protein, now considered to be critical for neuronal function. Until the current study, no other functional gene other than FMR1 had been shown to be inactivated in the disorder.

However, Wahlestedt knew the FMR1 gene locus-a specific point on a chromosome-was not well mapped. Wahlestedt and his colleagues hypothesized that unknown regulatory genes might be transcribed from the region.

The new study shows at least one other functional gene-FMR4-from this genetic region is linked to fragile X syndrome, although the gene's exact role in the intact brain remains uncharacterized.......

For anyone wondering, as I was, what the term anti-apoptic means, it relates to apoptosis for which I found some definitions on-line:


A form of cell death in which a programmed sequence of events leads to the elimination of cells without releasing harmful substances into the surrounding area. Apoptosis plays a crucial role in developing and maintaining health by eliminating old cells, unnecessary cells, and unhealthy cells. The human body replaces perhaps a million cells a second. Too little or too much apoptosis plays a role in a great many diseases. When programmed cell death does not work right, cells that should be eliminated may hang around and become immortal. For example, in cancer and leukemia. When apoptosis works overly well, it kills too many cells and inflicts grave tissue damage. This is the case in strokes and neurodegenerative disorders such as Alzheimer, Huntington and Parkinson diseases. Apoptosis is also called programmed cell death or cell suicide. Strictly speaking, the term apoptosis refers only to the structural changes cells go through, and programmed cell death refers to the complete underlying process, but the terms are often used interchangeably.

Merriam-Webster OnLine


Main Entry:
ap·o·pto·sis Listen to the pronunciation of apoptosis
\ˌa-pəp-ˈtō-səs, -pə-ˈtō-\
Inflected Form(s):
plural ap·o·pto·ses Listen to the pronunciation of apoptoses \-ˌsēz\
New Latin, from Greek apoptōsis a falling off, from apopiptein to fall off, from apo- + piptein to fall — more at feather
: a genetically directed process of cell self-destruction that is marked by the fragmentation of nuclear DNA, is activated either by the presence of a stimulus or removal of a suppressing agent or stimulus, and is a normal physiological process eliminating DNA-damaged, superfluous, or unwanted cells —called also programmed cell death
ap·o·pto·tic Listen to the pronunciation of apoptotic \-ˈtä-tik\ adjective

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