- Scientists carry out 12-year research on the cause for
leukoencephalopathy with cerebral calcifications and cysts (LCC).
- SNORD118 gene mutation found to be associated with LCC.
- Identification of the gene could improve diagnosis and
treatment for the condition.
A single gene mutation
has been found to be associated with leukoencephalopathy - a degenerative and
debilitating disease which involves the blood vessels of the brain.
Dr. Yanick Crow and Dr.
Ray O'Keefe from the Department of Evolution and Genomic Sciences at The University
of Manchester, carried out this experiment for over 12 years with inputs from
more than 60 scientists and academicians. The cause of this disease has long
been unknown and it is a very rare disease. The current study provides an
insight into the possible cause of the disease.
‘Identifying mutations associated with non-coding RNA aids in better understanding of diseases caused by non-protein coding part of the genome.’
Case of Leukoencephalopathy, Cerebral Calcifications and Cysts
Ajay Gulati and
colleagues describe a 36-year-old patient who presented with the triad of
leukoencephalopathy along with cerebral calcifications and cysts in their paper
titled "A case of leukoencephalopathy, cerebral calcifications and cysts".
The patient was found to
- Simple partial seizures
- Weakness of the right upper limb
- Mild right lower limb weakness
- There was reduced muscle power on neurological examination of
the right side
- Mild spasticity
- There was extensive calcification in the basal ganglia,
bilateral deep cerebral nuclei and the right thalamus.
- Cystic lesions that were large and round were found in the
When a serological test
was performed to identify the source of this disease, there was no source of
Gene Mutation - SNORD118
The researchers Dr.
Yanick Crow and colleagues, after studying the disease for a period of 12
years, have been able to identify a single gene mutation that could lead to the
development of this disease. The mutation at SNORD118 found using gene sequencing
was associated with
leukoencephalopathy along with cerebral calcifications and cysts.
Research associate, Dr.
Emma Jenkinson from the Department of Evolution and Genomic Sciences at The
University of Manchester says "The identification of SNORD118 as the instigator
of a progressive and frequently fatal brain disease is a very significant step
forward in understanding the role of non-coding RNAs in the development of
Non-coding RNAs have
been extensively studied in the various cancers of the body due to the
expression and function of a large number of micro RNAs in
. There have been numerous studies that have been undertaken to
identify the significance of these genes and their role in disease development
The studies have found
an association between a dysregulation of these non-coding regions of RNA and
tumorigenesis along with association with certain developmental, neurological
and cardiovascular disease.
33 families that were
affected by leukoencephalopathy with cerebral calcifications and cysts (LCC) were
identified and biological samples from them were collected. The mutated gene
was identified using the next generation of genome sequencing
Dr. Emma talks about the
merit of identifying the gene "Although LCC is relatively rare, by
understanding the mechanism of this disease we may be able to extrapolate
similar research into other diseases in the future - with the ultimate long
term aim being the discovery of new treatments for patients."
of the biological samples
from the 33 families provided the
scientists with 33 gene variants and when these variants were studied, many of
them were found to cause the disease.
LCC is a rare disease
but identifying this gene will aid in early detection of the disease with
preventive strategies initiated to control the white brain degeneration that
could occur. The disease which can develop at any stage of life can be
debilitating and result in premature death.
- A case of leukoencephalopathy, cerebral calcifications and cysts - (http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3271476/)
- Non-coding RNAs in human disease - (http://www.ncbi.nlm.nih.gov/pubmed/22094949)