JNNP: New mutation in SOD1 is a cause of ALS

More than 40 gene mutations are related to the pathogenesis of amyotrophic lateral sclerosis (ALS), and some gene mutations are also related to genetically related frontotemporal dementia (FTD)
.

The heritability of ALS is estimated to be 40%-53%, but only 5%-13% of patients report a positive family history of ALS

Mutations in the five exons of superoxide dismutase 1 (CuZn-SOD; SOD1) are one of the more common causes of hereditary ALS (hALS)

Since the first report in 1993, 8%-23% of patients diagnosed with familial ALS (fALS) have found SOD1 mutations, but in patients with no obvious family history, there are also 1%-4% of patients A new mutation in SOD1 (expressed as sporadic or simple ALS, sALS) was found
.

Although most mutations are found in heterozygous form, the popular SOD1 mutation p.

These genetic cases may appear as sporadic diseases

This article was published in " Journal of Neurology, Neurosurgery & Psychiatry " ( Journal of Neurology, Neurosurgery & Psychiatry )

 Newly diagnosed ALS patients are invited to donate blood samples for genetic research on the cause of ALS
.

The venous blood was collected in a vacuum tube containing EDTA

 Newly diagnosed ALS patients are invited to donate blood samples for genetic research on the cause of ALS

After the SOD1 mutation was found in four cases of sALS, after genetic counseling, at least three generations of medical genealogy studies were conducted on these families

This report focuses on four patients who were found to carry SOD1 mutations, these mutations may be confirmed as new mutations This report focuses on four patients who were found to carry SOD1 mutations, these mutations may be confirmed as new mutations

DNA analysis showed that patient B had a c.
268G>a (p.
Ala90Thr) mutation, which was not found in the parents
.

A similar c.

DNA analysis revealed that the c.
272A>T p mutation was heterozygous for patient C, and the Asp91Val mutation was present in the proband, but not in the parents or siblings
.

No other possible pathogenic mutations of ALS were found

In short, new mutations are a cause of sporadic amyotrophic lateral sclerosis.
During embryonic development, the origin of new mutations cannot be determined
.

All patients with ALS should receive genetic counseling and genetic screening, which is conducive to early diagnosis and treatment
.

MüllerK ,OhK ,  Nordin  A Müller  KMüller Oh  KOh Nordin  ANordin, et alSOD1Journal of Neurology, Neurosurgery & Psychiatry Published Online First:  13 September 2021.
 Published Online First: doi:  10.
1136/jnnp-2021-327520doi :

 

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