Which chromosome is SOD1 on?

Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or SOD1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. It is implicated in apoptosis and familial amyotrophic lateral sclerosis.

Is ALS a gender dependent disease?

ALS is no exception; its incidence (male: female ratio 3:1) and prevalence are higher in men than in women, with a predominance of men with younger disease onset.

What type of ALS is caused by mutation in the gene encoding copper zinc superoxide dismutase?

2 Rosen DR, Siddique T, Patterson D et al: Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1933; 362: 59–62.

Is ALS UMN or LMN?

Typical, or “classical,” ALS is associated with simultaneous upper motor neuron (UMN) and lower motor neuron (LMN) involvement at disease onset, whereas atypical forms, such as primary lateral sclerosis and progressive muscular atrophy, have early and predominant involvement in the UMN and LMN, respectively.

What proteins are affected by ALS?

TAR DNA binding protein 43 (TDP43) was linked to ALS in 2008. Mutations in TDP43 cause a dominant form of ALS and are responsible for about 4% of familial ALS and about 1% of sporadic ALS. The normal role of the TDP43 protein includes binding to RNA, the genetic messenger molecule.

Who carries the ALS gene?

Less frequently, ALS is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Does coffee affect ALS?

Caffeine intake was not associated with ALS risk; the pooled multivariable-adjusted RR comparing the highest to the lowest quintile of intake was 0.96 (95% CI 0.81-1.16). Similarly, neither coffee nor tea was associated with ALS risk.

Does wild type Cu Zn superoxide dismutase have pathogenic roles in amyotrophic lateral sclerosis?

Several researchers have attempted to extend the pathological roles of SOD1 misfolding in SOD1-ALS to more prevailing ALS cases, in which no mutations in the SOD1 gene are confirmed (non-SOD1 ALS). In other words, wild-type SOD1 could cause ALS when it somehow misfolds.

What disease is similar to ALS?

Primary Lateral Sclerosis (PLS) PLS is similar to ALS, but it affects only upper motor neurons. It causes weakness and stiffness in the arms and legs, a slowed walk, and poor coordination and balance. Speech also becomes slow and slurred. Like ALS, it usually starts in people 40 to 60 years old.